ClinGen Dosage Sensitivity Map

The Clinical Genome Resource (ClinGen) consortium is curating genes and regions of the genome to assess whether there is evidence to support that these genes/regions are dosage sensitive and should be targeted on a cytogenomic array.

All data are shown in GRCh37 and GRCh38 coordinates.

See New Dosage Map New! The ClinGen Dosage Sensitivity curations and downloads that are available at this site are now also available at www.clinicalgenome.org. Click on the button to access Dosage Sensitivity in the context of ClinGen's other curated information, including Gene-Disease Validity and Clinical Actionability.

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Search By Gene Name

  1. Or click on the following examples: ZEB2, PTEN, MAPT
  2. Filling out this entry will lead to submission failure.
Search By Location (GRCh37, GRCh38)

  2. Examples: chr2:44,000,000-45,500,000, 2p21-2p16.2



Genes/Regions Recently Reviewed

Gene/Region name Haploinsufficiency score Triplosensitivity score Date reviewed
MEIS2 3 0 2021-09-14
HMGA2 1 0 2021-09-14
POLR1D 3 0 2021-06-23
CABP2 30: Gene associated with autosomal recessive phenotype 0 2021-08-20
SLC7A9 30: Gene associated with autosomal recessive phenotype 0 2021-08-23
SIL1 30: Gene associated with autosomal recessive phenotype Not yet evaluated 2021-08-23
MID1 3 0 2021-08-23
FLNC 3 0 2021-07-13
APC 3 0 2021-07-18
TMEM127 3 0 2021-07-13
MSRB3 30: Gene associated with autosomal recessive phenotype 0 2021-08-23
ADGRV1 30: Gene associated with autosomal recessive phenotype 0 2021-08-23
SH2B1 1 0 2021-07-13
CSF2RA 30: Gene associated with autosomal recessive phenotype 0 2021-08-23
MAX 3 0 2021-07-20
SDHD 3 0 2021-08-11
RS1 3 0 2021-08-02
FANCB 3 0 2021-06-23
ZIC4 0 0 2021-08-25
BRCA2 3 0 2021-07-14
TTN 3 0 2021-08-02
ZIC1 0 0 2021-07-19
3q24 Region (includes ZIC1) 3 0 2021-07-19
16p13.11 population region (gnomAD-SV_v2.1_DEL_16_152730) 40: Dosage sensitivity unlikely 0 2021-08-23
1p36.11 population region (gnomAD-SV_v2.1_DEL_1_1937) 40: Dosage sensitivity unlikely 0 2021-08-17
1p36.11 population region (gnomAD-SV_v2.1_DEL_1_1939) 40: Dosage sensitivity unlikely 0 2021-08-17
1p36.11 population region (gnomAD-SV_v2.1_DEL_1_1941) 40: Dosage sensitivity unlikely 0 2021-08-17
1p36.11 population region (gnomAD-SV_v2.1_DEL_1_1944) 40: Dosage sensitivity unlikely 0 2021-08-17
8p23.1 population region (gnomAD-SV_v2.1_DUP_8_23708) 0 40: Dosage sensitivity unlikely 2021-08-17
15q13.3 population region (gnomAD-SV_v2.1_DEL_15_146627) 40: Dosage sensitivity unlikely 0 2021-08-17
8q24.3 population region (gnomAD-SV_v2.1_DEL_8_98285) 40: Dosage sensitivity unlikely 0 2021-08-17
9p11.2 population region (gnomAD-SV_v2.1_DEL_9_102025) 40: Dosage sensitivity unlikely 0 2021-08-17
9p11.2 population region (gnomAD-SV_v2.1_DEL_9_102027) 40: Dosage sensitivity unlikely 0 2021-08-17
9p11.2 population region (gnomAD-SV_v2.1_DEL_9_102032) 40: Dosage sensitivity unlikely 0 2021-08-17
9p11.2 population region (gnomAD-SV_v2.1_DEL_9_102036) 40: Dosage sensitivity unlikely 0 2021-08-17
9p11.2 population region (gnomAD-SV_v2.1_DEL_9_102046) 40: Dosage sensitivity unlikely 0 2021-08-17
9p11.2 population region (gnomAD-SV_v2.1_DEL_9_102085) 40: Dosage sensitivity unlikely 0 2021-08-17
9p11.2 population region (gnomAD-SV_v2.1_DEL_9_102099) 40: Dosage sensitivity unlikely 0 2021-08-17
9q21.11 population region (gnomAD-SV_v2.1_DUP_9_27462) 0 40: Dosage sensitivity unlikely 2021-08-17
15q13.2 population region (gnomAD-SV_v2.1_DEL_15_146467) 40: Dosage sensitivity unlikely 0 2021-08-17
15q13.2 population region (gnomAD-SV_v2.1_DEL_15_146464) 40: Dosage sensitivity unlikely 0 2021-08-17
15q13.2 population region (gnomAD-SV_v2.1_DEL_15_146452) 40: Dosage sensitivity unlikely 0 2021-08-17
1q32.2 population region (gnomAD-SV_v2.1_DEL_1_11282) 40: Dosage sensitivity unlikely 0 2021-08-16
16p12.3 population region (gnomAD-SV_v2.1_DEL_16_152900) 40: Dosage sensitivity unlikely 0 2021-08-12
1p36.11 population region (gnomAD-SV_v2.1_DEL_1_1834) 40: Dosage sensitivity unlikely 0 2021-08-12
1p36.11 population region (gnomAD-SV_v2.1_DEL_1_1938) 40: Dosage sensitivity unlikely 0 2021-08-12
1p36.11 population region (gnomAD-SV_v2.1_DEL_1_1943) 40: Dosage sensitivity unlikely 0 2021-08-12
1p36.11 population region (gnomAD-SV_v2.1_DEL_1_1945) 40: Dosage sensitivity unlikely 0 2021-08-12
4q13.2 population region (gnomAD-SV_v2.1_DEL_4_46399) 40: Dosage sensitivity unlikely 0 2021-08-12
4q13.2 population region (gnomAD-SV_v2.1_DEL_4_46404) 40: Dosage sensitivity unlikely 0 2021-08-12
4q13.2 population region (gnomAD-SV_v2.1_DEL_4_46401) 40: Dosage sensitivity unlikely 0 2021-08-12
4q13.3 population region (gnomAD-SV_v2.1_DEL_4_46744) 40: Dosage sensitivity unlikely 0 2021-08-12
4q13.3 population region (gnomAD-SV_v2.1_DEL_4_46753) 40: Dosage sensitivity unlikely 0 2021-08-12
5q13.2 population region (gnomAD-SV_v2.1_DUP_5_15350) 0 40: Dosage sensitivity unlikely 2021-08-12
5q13.2 population region (gnomAD-SV_v2.1_DEL_5_58897) 40: Dosage sensitivity unlikely 0 2021-08-12
5q13.2 population region (gnomAD-SV_v2.1_DUP_5_15442) 0 40: Dosage sensitivity unlikely 2021-08-12
5q13.2 population region (gnomAD-SV_v2.1_DEL_5_58900) 40: Dosage sensitivity unlikely 0 2021-08-12
5q31.3 population region (gnomAD-SV_v2.1_DEL_5_63328) 40: Dosage sensitivity unlikely 0 2021-08-12
5q35.3 population region (gnomAD-SV_v2.1_DEL_5_65831) 40: Dosage sensitivity unlikely 0 2021-08-12
5q35.3 population region (gnomAD-SV_v2.1_DEL_5_65880) 40: Dosage sensitivity unlikely 0 2021-08-12
7p22.1 population region (gnomAD-SV_v2.1_DEL_7_77765) 40: Dosage sensitivity unlikely 0 2021-08-12
7p22.1 population region (gnomAD-SV_v2.1_DEL_7_77769) 40: Dosage sensitivity unlikely 0 2021-08-12
7p22.1 population region (gnomAD-SV_v2.1_DEL_7_77893) 40: Dosage sensitivity unlikely 0 2021-08-12
7q11.21 population region (gnomAD-SV_v2.1_DEL_7_81890) 40: Dosage sensitivity unlikely 0 2021-08-12
7q11.23 population region (gnomAD-SV_v2.1_DEL_7_82621) 40: Dosage sensitivity unlikely 0 2021-08-12
7q11.23 population region (gnomAD-SV_v2.1_DEL_7_82636) 40: Dosage sensitivity unlikely 0 2021-08-12
7q11.23 population region (gnomAD-SV_v2.1_DEL_7_82637) 40: Dosage sensitivity unlikely 0 2021-08-12
7q11.23 population region (gnomAD-SV_v2.1_DEL_7_82638) 40: Dosage sensitivity unlikely 0 2021-08-12
7q22.1 population region (gnomAD-SV_v2.1_DEL_7_84190) 40: Dosage sensitivity unlikely 0 2021-08-12
7q22.1 population region (gnomAD-SV_v2.1_DEL_7_84412) 40: Dosage sensitivity unlikely 0 2021-08-12
7q34 population region (gnomAD-SV_v2.1_DEL_7_87016) 40: Dosage sensitivity unlikely 0 2021-08-11
7q34 population region (gnomAD-SV_v2.1_DEL_7_87015) 40: Dosage sensitivity unlikely 0 2021-08-11
7q35 population region (gnomAD-SV_v2.1_DEL_7_87112) 40: Dosage sensitivity unlikely 0 2021-08-11
8p23.3 population region (gnomAD-SV_v2.1_DEL_8_88408) 40: Dosage sensitivity unlikely 0 2021-08-11
8p23.3 population region (gnomAD-SV_v2.1_DEL_8_88399) 40: Dosage sensitivity unlikely 0 2021-08-11
8p23.1 population region (gnomAD-SV_v2.1_DEL_8_89353) 40: Dosage sensitivity unlikely 0 2021-08-11
8p23.1 population region (gnomAD-SV_v2.1_DEL_8_89355) 40: Dosage sensitivity unlikely 0 2021-08-11
8p23.1 population region (gnomAD-SV_v2.1_DEL_8_89356) 40: Dosage sensitivity unlikely 0 2021-08-11
8p23.1 population region (gnomAD-SV_v2.1_DEL_8_89357) 40: Dosage sensitivity unlikely 0 2021-08-11
8p23.1 population region (gnomAD-SV_v2.1_DEL_8_89703) 40: Dosage sensitivity unlikely 0 2021-08-11
8p23.1 population region (gnomAD-SV_v2.1_DEL_8_89706) 40: Dosage sensitivity unlikely 0 2021-08-11
8p23.1 population region (gnomAD-SV_v2.1_DUP_8_23819) 0 40: Dosage sensitivity unlikely 2021-08-11
8p23.1 population region (gnomAD-SV_v2.1_DEL_8_89725) 40: Dosage sensitivity unlikely 0 2021-08-11
8q24.3 population region (gnomAD-SV_v2.1_DEL_8_98283) 40: Dosage sensitivity unlikely 0 2021-08-11
9p24.3 population region (gnomAD-SV_v2.1_DUP_9_26178) 0 40: Dosage sensitivity unlikely 2021-08-11
9p13.1 population region (gnomAD-SV_v2.1_DEL_9_101840) 40: Dosage sensitivity unlikely 0 2021-08-11
9p12 population region (gnomAD-SV_v2.1_DEL_9_101915) 40: Dosage sensitivity unlikely 0 2021-08-11
9p12 population region (gnomAD-SV_v2.1_DEL_9_101925) 40: Dosage sensitivity unlikely 0 2021-08-11
9p12 population region (gnomAD-SV_v2.1_DEL_9_101967) 40: Dosage sensitivity unlikely 0 2021-08-11
9p11.2 population region (gnomAD-SV_v2.1_DEL_9_102024) 40: Dosage sensitivity unlikely 0 2021-08-11
9p11.2 population region (gnomAD-SV_v2.1_DEL_9_102035) 40: Dosage sensitivity unlikely 0 2021-08-11
9p11.2 population region (gnomAD-SV_v2.1_DEL_9_102042) 40: Dosage sensitivity unlikely 0 2021-08-11
9p11.2 population region (gnomAD-SV_v2.1_DEL_9_102043) 40: Dosage sensitivity unlikely 0 2021-08-11
9p11.2 population region (gnomAD-SV_v2.1_DEL_9_102047) 40: Dosage sensitivity unlikely 0 2021-08-11
9p11.2 population region (gnomAD-SV_v2.1_DEL_9_102048) 40: Dosage sensitivity unlikely 0 2021-08-11
9p11.2 population region (gnomAD-SV_v2.1_DEL_9_102049) 40: Dosage sensitivity unlikely 0 2021-08-11
9p11.2 population region (gnomAD-SV_v2.1_DEL_9_102096) 40: Dosage sensitivity unlikely 0 2021-08-11
9p11.2 population region (gnomAD-SV_v2.1_DEL_9_102097) 40: Dosage sensitivity unlikely 0 2021-08-11
9p11.2 population region (gnomAD-SV_v2.1_DEL_9_102187) 40: Dosage sensitivity unlikely 0 2021-08-11
9p11.2 population region (gnomAD-SV_v2.1_DEL_9_102236) 40: Dosage sensitivity unlikely 0 2021-08-11
9p11.2 population region (gnomAD-SV_v2.1_DEL_9_102294) 40: Dosage sensitivity unlikely 0 2021-08-11
9p11.2 population region (gnomAD-SV_v2.1_DEL_9_102296) 40: Dosage sensitivity unlikely 0 2021-08-11
9p11.1 population region (gnomAD-SV_v2.1_DEL_9_102297) 40: Dosage sensitivity unlikely 0 2021-08-11
9q12 population region (gnomAD-SV_v2.1_DEL_9_102303) 40: Dosage sensitivity unlikely 0 2021-08-11
9q13 population region (gnomAD-SV_v2.1_DEL_9_102391) 40: Dosage sensitivity unlikely 0 2021-08-10
9q21.11 population region (gnomAD-SV_v2.1_DEL_9_102459) 40: Dosage sensitivity unlikely 0 2021-08-10
9q21.11 population region (gnomAD-SV_v2.1_DEL_9_102460) 40: Dosage sensitivity unlikely 0 2021-08-10
9q21.11 population region (gnomAD-SV_v2.1_DEL_9_102461) 40: Dosage sensitivity unlikely 0 2021-08-10
9q21.11 population region (gnomAD-SV_v2.1_DUP_9_27460) 0 40: Dosage sensitivity unlikely 2021-08-10
9q31.2 population region (gnomAD-SV_v2.1_DEL_9_104809) 40: Dosage sensitivity unlikely 0 2021-08-10
9q34.3 population region (gnomAD-SV_v2.1_DEL_9_106704) 40: Dosage sensitivity unlikely 0 2021-08-10
10p12.33 population region (gnomAD-SV_v2.1_DEL_10_108282) 40: Dosage sensitivity unlikely 0 2021-08-10
10p12.33 population region (gnomAD-SV_v2.1_DEL_10_108283) 40: Dosage sensitivity unlikely 0 2021-08-10
10p12.33 population region (gnomAD-SV_v2.1_DEL_10_108288) 40: Dosage sensitivity unlikely 0 2021-08-10
10p12.33 population region (gnomAD-SV_v2.1_DEL_10_108289) 40: Dosage sensitivity unlikely 0 2021-08-10
10q11.22 population region (gnomAD-SV_v2.1_DEL_10_109999) 40: Dosage sensitivity unlikely 0 2021-08-10
10q11.22 population region (gnomAD-SV_v2.1_DEL_10_110021) 40: Dosage sensitivity unlikely 0 2021-08-10
10q11.22 population region (gnomAD-SV_v2.1_DEL_10_109954) 40: Dosage sensitivity unlikely 0 2021-08-10
10q11.22 population region (gnomAD-SV_v2.1_DEL_10_109958) 40: Dosage sensitivity unlikely 0 2021-08-10
10q11.22 population region (gnomAD-SV_v2.1_DEL_10_109998) 40: Dosage sensitivity unlikely 0 2021-08-10
10q11.22 population region (gnomAD-SV_v2.1_DEL_10_110000) 40: Dosage sensitivity unlikely 0 2021-08-10
10q11.22 population region (gnomAD-SV_v2.1_DEL_10_110001) 40: Dosage sensitivity unlikely 0 2021-08-10
10q11.22 population region (gnomAD-SV_v2.1_DEL_10_110016) 40: Dosage sensitivity unlikely 0 2021-08-10
10q11.22 population region (gnomAD-SV_v2.1_DEL_10_110019) 40: Dosage sensitivity unlikely 0 2021-08-10
10q11.22 population region (gnomAD-SV_v2.1_DEL_10_110022) 40: Dosage sensitivity unlikely 0 2021-08-10
10q11.22 population region (gnomAD-SV_v2.1_DEL_10_110031) 40: Dosage sensitivity unlikely 0 2021-08-10
10q11.22 population region (gnomAD-SV_v2.1_DEL_10_110040) 40: Dosage sensitivity unlikely 0 2021-08-10
10q11.22 population region (gnomAD-SV_v2.1_DEL_10_110043) 40: Dosage sensitivity unlikely 0 2021-08-10
10q11.22 population region (gnomAD-SV_v2.1_DEL_10_110044) 40: Dosage sensitivity unlikely 0 2021-08-10
10q11.22 population region (gnomAD-SV_v2.1_DEL_10_110072) 40: Dosage sensitivity unlikely 0 2021-08-10
10q11.23 population region (gnomAD-SV_v2.1_DEL_10_110193) 40: Dosage sensitivity unlikely 0 2021-08-10
10q11.23 population region (gnomAD-SV_v2.1_DEL_10_110221) 40: Dosage sensitivity unlikely 0 2021-08-10
10q11.23 population region (gnomAD-SV_v2.1_DEL_10_110222) 40: Dosage sensitivity unlikely 0 2021-08-10
10q11.23 population region (gnomAD-SV_v2.1_DEL_10_110223) 40: Dosage sensitivity unlikely 0 2021-08-10
10q11.23 population region (gnomAD-SV_v2.1_DEL_10_110224) 40: Dosage sensitivity unlikely 0 2021-08-10
10q11.23 population region (gnomAD-SV_v2.1_DEL_10_110225) 40: Dosage sensitivity unlikely 0 2021-08-10
10q11.23 population region (gnomAD-SV_v2.1_DEL_10_110229) 40: Dosage sensitivity unlikely 0 2021-08-10
10q11.23 population region (gnomAD-SV_v2.1_DEL_10_110230) 40: Dosage sensitivity unlikely 0 2021-08-10
10q22.3 population region (gnomAD-SV_v2.1_DEL_10_112166) 40: Dosage sensitivity unlikely 0 2021-08-10
11p15.4 population region (gnomAD-SV_v2.1_DEL_11_116046) 40: Dosage sensitivity unlikely 0 2021-08-10
11p15.4 population region (gnomAD-SV_v2.1_DEL_11_116124) 40: Dosage sensitivity unlikely 0 2021-08-10
11p15.4 population region (gnomAD-SV_v2.1_DEL_11_116241) 40: Dosage sensitivity unlikely 0 2021-08-10
11q11 population region (gnomAD-SV_v2.1_DEL_11_119505) 40: Dosage sensitivity unlikely 0 2021-08-09
11q11 population region (gnomAD-SV_v2.1_DEL_11_119564) 40: Dosage sensitivity unlikely 0 2021-08-09
11q14.3 population region (gnomAD-SV_v2.1_DUP_11_33042) 0 40: Dosage sensitivity unlikely 2021-08-09
11q14.3 population region (gnomAD-SV_v2.1_DEL_11_121860) 40: Dosage sensitivity unlikely 0 2021-08-09
12p13.31 population region (gnomAD-SV_v2.1_DUP_12_33971) 0 40: Dosage sensitivity unlikely 2021-08-09
12p13.2 population region (gnomAD-SV_v2.1_DEL_12_125567) 40: Dosage sensitivity unlikely 0 2021-08-09
12p13.2 population region (gnomAD-SV_v2.1_DEL_12_125568) 40: Dosage sensitivity unlikely 0 2021-08-09
12p13.2 population region (gnomAD-SV_v2.1_DEL_12_125610) 40: Dosage sensitivity unlikely 0 2021-08-09
12p11.23 population region (gnomAD-SV_v2.1_DEL_12_126677) 40: Dosage sensitivity unlikely 0 2021-08-09
12q12 population region (gnomAD-SV_v2.1_DEL_12_127735) 40: Dosage sensitivity unlikely 0 2021-08-09
14q11.2 population region (gnomAD-SV_v2.1_DEL_14_140616) 40: Dosage sensitivity unlikely 0 2021-08-09
15q11.2 population region (gnomAD-SV_v2.1_DEL_15_145826) 40: Dosage sensitivity unlikely 0 2021-08-09
15q11.2 population region (gnomAD-SV_v2.1_DEL_15_145837) 40: Dosage sensitivity unlikely 0 2021-08-09
15q13.2 population region (gnomAD-SV_v2.1_DEL_15_146428) 40: Dosage sensitivity unlikely 0 2021-08-09
15q13.2 population region (gnomAD-SV_v2.1_DEL_15_146453) 40: Dosage sensitivity unlikely 0 2021-08-09
15q13.3 population region (gnomAD-SV_v2.1_DUP_15_39790) 0 40: Dosage sensitivity unlikely 2021-08-09
15q13.3 population region (gnomAD-SV_v2.1_DEL_15_146609) 40: Dosage sensitivity unlikely 0 2021-08-09
15q13.3 population region (gnomAD-SV_v2.1_DEL_15_146612) 40: Dosage sensitivity unlikely 0 2021-08-09
15q13.3 population region (gnomAD-SV_v2.1_DEL_15_146614) 40: Dosage sensitivity unlikely 0 2021-08-09
15q13.3 population region (gnomAD-SV_v2.1_DEL_15_146625) 40: Dosage sensitivity unlikely 0 2021-08-09
15q14 population region (gnomAD-SV_v2.1_DEL_15_146738) 40: Dosage sensitivity unlikely 0 2021-08-09
15q14 population region (gnomAD-SV_v2.1_DEL_15_146739) 40: Dosage sensitivity unlikely 0 2021-08-09
16p13.3 population region (gnomAD-SV_v2.1_DEL_16_151010) 40: Dosage sensitivity unlikely 0 2021-08-09
16p13.12 population region (gnomAD-SV_v2.1_DEL_16_152599) 40: Dosage sensitivity unlikely 0 2021-08-09
16p13.12 population region (gnomAD-SV_v2.1_DEL_16_152600) 40: Dosage sensitivity unlikely 0 2021-08-09
4q13.2 population region (gnomAD-SV_v2.1_DEL_4_46398) 40: Dosage sensitivity unlikely 0 2021-08-06
4q13.2 population region (gnomAD-SV_v2.1_DEL_4_46396) 40: Dosage sensitivity unlikely 0 2021-08-06
3p12.3 population region (gnomAD-SV_v2.1_DEL_3_33722) 40: Dosage sensitivity unlikely 0 2021-08-06
2q21.2 population region (gnomAD-SV_v2.1_DUP_2_6167) 0 40: Dosage sensitivity unlikely 2021-08-06
2q21.2 population region (gnomAD-SV_v2.1_DEL_2_22275) 40: Dosage sensitivity unlikely 0 2021-08-06
2q21.1 population region (gnomAD-SV_v2.1_DEL_2_22163) 40: Dosage sensitivity unlikely 0 2021-08-06
2q21.1 population region (gnomAD-SV_v2.1_DEL_2_22156) 40: Dosage sensitivity unlikely 0 2021-08-06
2q21.1 population region (gnomAD-SV_v2.1_DEL_2_22155) 40: Dosage sensitivity unlikely 0 2021-08-06
2q21.1 population region (gnomAD-SV_v2.1_DEL_2_22135) 40: Dosage sensitivity unlikely 0 2021-08-06
2q21.1 population region (gnomAD-SV_v2.1_DEL_2_22133) 40: Dosage sensitivity unlikely 0 2021-08-06
2p11.2 population region (gnomAD-SV_v2.1_DEL_2_19888) 40: Dosage sensitivity unlikely 0 2021-08-06
1q44 population region (gnomAD-SV_v2.1_DEL_1_13898) 40: Dosage sensitivity unlikely 0 2021-08-06
1q44 population region (gnomAD-SV_v2.1_DEL_1_13890) 40: Dosage sensitivity unlikely 0 2021-08-06
1q44 population region (gnomAD-SV_v2.1_DEL_1_13889) 40: Dosage sensitivity unlikely 0 2021-08-06
1q44 population region (gnomAD-SV_v2.1_DEL_1_13888) 40: Dosage sensitivity unlikely 0 2021-08-06
1q44 population region (gnomAD-SV_v2.1_DEL_1_13885) 40: Dosage sensitivity unlikely 0 2021-08-06
1q44 population region (gnomAD-SV_v2.1_DUP_1_3816) 0 40: Dosage sensitivity unlikely 2021-08-06
1q25.2 population region (gnomAD-SV_v2.1_DEL_1_9549) 40: Dosage sensitivity unlikely 0 2021-08-06
1q23.3 population region (gnomAD-SV_v2.1_DEL_1_8646) 40: Dosage sensitivity unlikely 0 2021-08-06
1q21.3 population region (gnomAD-SV_v2.1_DEL_1_8087) 40: Dosage sensitivity unlikely 0 2021-08-06
1q21.3 population region (gnomAD-SV_v2.1_DEL_1_8075) 40: Dosage sensitivity unlikely 0 2021-08-06
1q21.2 population region (gnomAD-SV_v2.1_DEL_1_7863) 40: Dosage sensitivity unlikely 0 2021-08-06
1q21.2 population region (gnomAD-SV_v2.1_DEL_1_7859) 40: Dosage sensitivity unlikely 0 2021-08-06
1q21.2 population region (gnomAD-SV_v2.1_DEL_1_7798) 40: Dosage sensitivity unlikely 0 2021-08-06
1q21.2 population region (gnomAD-SV_v2.1_DEL_1_7795) 40: Dosage sensitivity unlikely 0 2021-08-06
1q21.2 population region (gnomAD-SV_v2.1_DEL_1_7781) 40: Dosage sensitivity unlikely 0 2021-08-06
1q21.2 population region (gnomAD-SV_v2.1_DEL_1_7778) 40: Dosage sensitivity unlikely 0 2021-08-06
1q21.1 population region (gnomAD-SV_v2.1_DEL_1_7699) 40: Dosage sensitivity unlikely 0 2021-08-06
1p13.3 population region (gnomAD-SV_v2.1_DEL_1_7022) 40: Dosage sensitivity unlikely 0 2021-08-06
1p13.3 population region (gnomAD-SV_v2.1_DEL_1_6959) 40: Dosage sensitivity unlikely 0 2021-08-06
1p21.1 population region (gnomAD-SV_v2.1_DUP_1_1884) 0 40: Dosage sensitivity unlikely 2021-08-06
1p36.21 population region (gnomAD-SV_v2.1_DEL_1_1100) 40: Dosage sensitivity unlikely 0 2021-08-06
1p36.21 population region (gnomAD-SV_v2.1_DEL_1_1094) 40: Dosage sensitivity unlikely 0 2021-08-06
1p36.21 population region (gnomAD-SV_v2.1_DEL_1_1089) 40: Dosage sensitivity unlikely 0 2021-08-06
1p36.21 population region (gnomAD-SV_v2.1_DEL_1_1085) 40: Dosage sensitivity unlikely 0 2021-08-06
1p36.21 population region (gnomAD-SV_v2.1_DUP_1_507) 0 40: Dosage sensitivity unlikely 2021-08-06
1p36.33 population region (gnomAD-SV_v2.1_DEL_1_195) 40: Dosage sensitivity unlikely 0 2021-08-06
1p36.33 population region (gnomAD-SV_v2.1_DEL_1_11) 40: Dosage sensitivity unlikely 0 2021-08-06
9p12 population region (DGV_Gold_Standard_June_2021_gssvL130619) 40: Dosage sensitivity unlikely 0 2021-08-05
9p12 population region (DGV_Gold_Standard_June_2021_gssvL130637) 40: Dosage sensitivity unlikely 0 2021-08-05
15q11.2 population region (DGV_Gold_Standard_June_2021_gssvG12224) 0 40: Dosage sensitivity unlikely 2021-08-04
12p11.2 population region (DGV_Gold_Standard_June_2021_gssvG23340) 0 40: Dosage sensitivity unlikely 2021-08-03
1p36.33 population region ((DGV_Gold_Standard_June_2021_gssvG23)) 0 40: Dosage sensitivity unlikely 2021-08-06
1p36.33 population region (DGV_Gold_Standard_June_2021_gssvG23) 0 40: Dosage sensitivity unlikely 2021-08-06
1p36.21 population region (DGV_Gold_Standard_June_2021_gssvG371) 0 40: Dosage sensitivity unlikely 2021-08-06
1p13.3 population region (DGV_Gold_Standard_June_2021_gssvG1423) 0 40: Dosage sensitivity unlikely 2021-08-06
1q21.3 population region (DGV_Gold_Standard_June_2021_gssvG2465) 0 40: Dosage sensitivity unlikely 2021-08-06
1p36.21 population region (DGV_Gold_Standard_June_2021_gssvL889) 40: Dosage sensitivity unlikely 0 2021-08-06
1p36.21 population region (DGV_Gold_Standard_June_2021_gssvL891) 40: Dosage sensitivity unlikely 0 2021-08-06
1p36.21 population region (DGV_Gold_Standard_June_2021_gssvL905) 40: Dosage sensitivity unlikely 0 2021-08-06
1p36.21 population region (DGV_Gold_Standard_June_2021_gssvL1108) 40: Dosage sensitivity unlikely 0 2021-08-06
1p36.21 population region (DGV_Gold_Standard_June_2021_gssvL1109) 40: Dosage sensitivity unlikely 0 2021-08-06
1p36.13 population region (DGV_Gold_Standard_June_2021_gssvL1195) 40: Dosage sensitivity unlikely 0 2021-08-06
1p36.12 population region (DGV_Gold_Standard_June_2021_gssvL1420) 40: Dosage sensitivity unlikely 0 2021-08-06
1p31.3 population region (DGV_Gold_Standard_June_2021_gssvL2940) 40: Dosage sensitivity unlikely 0 2021-08-06
1p31.3 population region (DGV_Gold_Standard_June_2021_gssvL3013) 40: Dosage sensitivity unlikely 0 2021-08-06
1q21.2 population region (DGV_Gold_Standard_June_2021_gssvL5122) 40: Dosage sensitivity unlikely 0 2021-08-06
1q21.2 population region (DGV_Gold_Standard_June_2021_gssvL5133) 40: Dosage sensitivity unlikely 0 2021-08-06
1q21.2 population region (DGV_Gold_Standard_June_2021_gssvL5166) 40: Dosage sensitivity unlikely 0 2021-08-06
1q21.3 population region (DGV_Gold_Standard_June_2021_gssvL5433) 40: Dosage sensitivity unlikely 0 2021-08-06
1q23.3 population region (DGV_Gold_Standard_June_2021_gssvL5778) 40: Dosage sensitivity unlikely 0 2021-08-06
1q24.2 population region (DGV_Gold_Standard_June_2021_gssvL5980) 40: Dosage sensitivity unlikely 0 2021-08-06
1q41 population region (DGV_Gold_Standard_June_2021_gssvL7905) 40: Dosage sensitivity unlikely 0 2021-08-06
1q44 population region (DGV_Gold_Standard_June_2021_gssvL8766) 40: Dosage sensitivity unlikely 0 2021-08-06
1q44 population region (DGV_Gold_Standard_June_2021_gssvL8958) 40: Dosage sensitivity unlikely 0 2021-08-06
2p11.2 population region (DGV_Gold_Standard_June_2021_gssvL64414) 40: Dosage sensitivity unlikely 0 2021-08-06
2p11.2 population region (DGV_Gold_Standard_June_2021_gssvL64418) 40: Dosage sensitivity unlikely 0 2021-08-06
2p11.2 population region (DGV_Gold_Standard_June_2021_gssvL64421) 40: Dosage sensitivity unlikely 0 2021-08-06
2p11.2 population region (DGV_Gold_Standard_June_2021_gssvL64445) 40: Dosage sensitivity unlikely 0 2021-08-06
2p11.2 population region (DGV_Gold_Standard_June_2021_gssvL64458) 40: Dosage sensitivity unlikely 0 2021-08-06
2p11.2 population region (DGV_Gold_Standard_June_2021_gssvL64514) 40: Dosage sensitivity unlikely 0 2021-08-06
2q21.1 population region (DGV_Gold_Standard_June_2021_gssvL66075) 40: Dosage sensitivity unlikely 0 2021-08-06
2q37.3 population region (DGV_Gold_Standard_June_2021_gssvL70815) 40: Dosage sensitivity unlikely 0 2021-08-06
3q11.2 population region (DGV_Gold_Standard_June_2021_gssvL83303) 40: Dosage sensitivity unlikely 0 2021-08-06
3q11.2 population region (DGV_Gold_Standard_June_2021_gssvL83307) 40: Dosage sensitivity unlikely 0 2021-08-06
3q25.31 population region (DGV_Gold_Standard_June_2021_gssvL85294) 40: Dosage sensitivity unlikely 0 2021-08-06
3q29 population region (DGV_Gold_Standard_June_2021_gssvL86947) 40: Dosage sensitivity unlikely 0 2021-08-06
3p12.3 population region (DGV_Gold_Standard_June_2021_gssvL82397) 40: Dosage sensitivity unlikely 0 2021-08-06
3p12.3 population region (DGV_Gold_Standard_June_2021_gssvL82434) 40: Dosage sensitivity unlikely 0 2021-08-06
3q29 population region (DGV_Gold_Standard_June_2021_gssvG26791) 0 40: Dosage sensitivity unlikely 2021-08-06
4q13.3 population region (DGV_Gold_Standard_June_2021_gssvL91223) 40: Dosage sensitivity unlikely 0 2021-08-06
4q13.2 population region (DGV_Gold_Standard_June_2021_gssvL90978) 40: Dosage sensitivity unlikely 0 2021-08-06
4p11 population region (DGV_Gold_Standard_June_2021_gssvL90109) 40: Dosage sensitivity unlikely 0 2021-08-06
4p16.1 population region (DGV_Gold_Standard_June_2021_gssvL88361) 40: Dosage sensitivity unlikely 0 2021-08-06
4p16.1 population region (DGV_Gold_Standard_June_2021_gssvG27165) 0 40: Dosage sensitivity unlikely 2021-08-06
4p11 population region (DGV_Gold_Standard_June_2021_gssvG27527) 0 40: Dosage sensitivity unlikely 2021-08-06
5q31.3 population region (DGV_Gold_Standard_June_2021_gssvL102648) 40: Dosage sensitivity unlikely 0 2021-08-06
5q35.3 population region (DGV_Gold_Standard_June_2021_gssvL104164) 40: Dosage sensitivity unlikely 0 2021-08-06
5q35.3 population region (DGV_Gold_Standard_June_2021_gssvL104429) 40: Dosage sensitivity unlikely 0 2021-08-05
5q22.1 population region (DGV_Gold_Standard_June_2021_gssvL101506) 40: Dosage sensitivity unlikely 0 2021-08-05
5p15.33 population region (DGV_Gold_Standard_June_2021_gssvG29169) 0 40: Dosage sensitivity unlikely 2021-08-05
5q13.2 population region (DGV_Gold_Standard_June_2021_gssvG30124) 0 40: Dosage sensitivity unlikely 2021-08-05
6p22.1 population region (DGV_Gold_Standard_June_2021_gssvL105924) 40: Dosage sensitivity unlikely 0 2021-08-05
6p22.1 population region (DGV_Gold_Standard_June_2021_gssvL105927) 40: Dosage sensitivity unlikely 0 2021-08-05
6p21.32 population region (DGV_Gold_Standard_June_2021_gssvL106264) 40: Dosage sensitivity unlikely 0 2021-08-05
6p21.32 population region (DGV_Gold_Standard_June_2021_gssvL106269) 40: Dosage sensitivity unlikely 0 2021-08-05
6p21.32 population region (DGV_Gold_Standard_June_2021_gssvL106271) 40: Dosage sensitivity unlikely 0 2021-08-05
6p25.3 population region (DGV_Gold_Standard_June_2021_gssvL104460) 40: Dosage sensitivity unlikely 0 2021-08-05
6q13 population region (DGV_Gold_Standard_June_2021_gssvG32688) 0 40: Dosage sensitivity unlikely 2021-08-05
6q13 population region (DGV_Gold_Standard_June_2021_gssvG32691) 0 40: Dosage sensitivity unlikely 2021-08-05
7p22.1 population region (DGV_Gold_Standard_June_2021_gssvL113541) 40: Dosage sensitivity unlikely 0 2021-08-05
7p14.1 population region (DGV_Gold_Standard_June_2021_gssvL115094) 40: Dosage sensitivity unlikely 0 2021-08-05
7p11.2 population region (DGV_Gold_Standard_June_2021_gssvL115697) 40: Dosage sensitivity unlikely 0 2021-08-05
7q11.21 population region (DGV_Gold_Standard_June_2021_gssvL115987) 40: Dosage sensitivity unlikely 0 2021-08-05
7q11.21 population region (DGV_Gold_Standard_June_2021_gssvL116036) 40: Dosage sensitivity unlikely 0 2021-08-05
7q11.23 population region (DGV_Gold_Standard_June_2021_gssvL116711) 40: Dosage sensitivity unlikely 0 2021-08-05
7q34 population region (DGV_Gold_Standard_June_2021_gssvL119360) 40: Dosage sensitivity unlikely 0 2021-08-05
7q34 population region (DGV_Gold_Standard_June_2021_gssvL119369) 40: Dosage sensitivity unlikely 0 2021-08-05
7q34 population region (DGV_Gold_Standard_June_2021_gssvL119380) 40: Dosage sensitivity unlikely 0 2021-08-05
7q34 population region (DGV_Gold_Standard_June_2021_gssvL119381) 40: Dosage sensitivity unlikely 0 2021-08-05
7q22.1 population region (DGV_Gold_Standard_June_2021_gssvL117874) 40: Dosage sensitivity unlikely 0 2021-08-05
7q35 population region (DGV_Gold_Standard_June_2021_gssvG35898) 0 40: Dosage sensitivity unlikely 2021-08-05
7q35 population region (DGV_Gold_Standard_June_2021_gssvL119429) 40: Dosage sensitivity unlikely 0 2021-08-05
7q36.1 population region (DGV_Gold_Standard_June_2021_gssvL119849) 40: Dosage sensitivity unlikely 0 2021-08-05
8p23.1 population region (DGV_Gold_Standard_June_2021_gssvG36607) 0 40: Dosage sensitivity unlikely 2021-08-05
8p23.1 population region (DGV_Gold_Standard_June_2021_gssvG36608) 0 40: Dosage sensitivity unlikely 2021-08-05
8p23.1 population region (DGV_Gold_Standard_June_2021_gssvG36644) 0 40: Dosage sensitivity unlikely 2021-08-05
9q31.1 population region (DGV_Gold_Standard_June_2021_gssvL132495) 40: Dosage sensitivity unlikely 0 2021-08-05
9p11.2 population region (DGV_Gold_Standard_June_2021_gssvG38779) 0 40: Dosage sensitivity unlikely 2021-08-05
9q32 population region (DGV_Gold_Standard_June_2021_gssvG40321) 0 40: Dosage sensitivity unlikely 2021-08-05
10p13 population region (DGV_Gold_Standard_June_2021_gssvL10668) 40: Dosage sensitivity unlikely 0 2021-08-05
10p12.1 population region (DGV_Gold_Standard_June_2021_gssvL11273) 40: Dosage sensitivity unlikely 0 2021-08-05
10q11.22 population region (DGV_Gold_Standard_June_2021_gssvG4512) 0 40: Dosage sensitivity unlikely 2021-08-05
10q11.22 population region (DGV_Gold_Standard_June_2021_gssvL12105) 40: Dosage sensitivity unlikely 0 2021-08-05
10q11.23 population region (DGV_Gold_Standard_June_2021_gssvL12109) 40: Dosage sensitivity unlikely 0 2021-08-05
10q11.22 population region (DGV_Gold_Standard_June_2021_gssvL12112) 40: Dosage sensitivity unlikely 0 2021-08-05
10q22.1 population region (DGV_Gold_Standard_June_2021_gssvL13247) 40: Dosage sensitivity unlikely 0 2021-08-05
10q22.1 population region (DGV_Gold_Standard_June_2021_gssvL13249) 40: Dosage sensitivity unlikely 0 2021-08-05
11q11 population region (DGV_Gold_Standard_June_2021_gssvL19042) 40: Dosage sensitivity unlikely 0 2021-08-05
11q11 population region (DGV_Gold_Standard_June_2021_gssvL19045) 40: Dosage sensitivity unlikely 0 2021-08-05
11q13.4 population region (DGV_Gold_Standard_June_2021_gssvL19865) 40: Dosage sensitivity unlikely 0 2021-08-05
11q22.2 population region (DGV_Gold_Standard_June_2021_gssvL21098) 40: Dosage sensitivity unlikely 0 2021-08-05
11p15.4 population region (DGV_Gold_Standard_June_2021_gssvL16881) 40: Dosage sensitivity unlikely 0 2021-08-05
11p15.4 population region (DGV_Gold_Standard_June_2021_gssvL16961) 40: Dosage sensitivity unlikely 0 2021-08-05
11p15.1 population region (DGV_Gold_Standard_June_2021_gssvL17400) 40: Dosage sensitivity unlikely 0 2021-08-05
11p15.5 population region (DGV_Gold_Standard_June_2021_gssvL16511) 40: Dosage sensitivity unlikely 0 2021-08-05
11p15.4 population region (DGV_Gold_Standard_June_2021_gssvL16732) 40: Dosage sensitivity unlikely 0 2021-08-05
11p15.4 population region (DGV_Gold_Standard_June_2021_gssvL16737) 40: Dosage sensitivity unlikely 0 2021-08-05
11p15.4 population region (DGV_Gold_Standard_June_2021_gssvL16784) 40: Dosage sensitivity unlikely 0 2021-08-05
11p15.4 population region (DGV_Gold_Standard_June_2021_gssvG5919) 0 40: Dosage sensitivity unlikely 2021-08-05
11p15.4 population region (DGV_Gold_Standard_June_2021_gssvG5957) 0 40: Dosage sensitivity unlikely 2021-08-05
11p15.1 population region (DGV_Gold_Standard_June_2021_gssvG6192) 0 40: Dosage sensitivity unlikely 2021-08-05
11p14.1 population region (DGV_Gold_Standard_June_2021_gssvG6305) 0 40: Dosage sensitivity unlikely 2021-08-05
11q12.2 population region (DGV_Gold_Standard_June_2021_gssvG6800) 0 40: Dosage sensitivity unlikely 2021-08-04
12p13.2 population region (DGV_Gold_Standard_June_2021_gssvL23223) 40: Dosage sensitivity unlikely 0 2021-08-04
12p13.2 population region (DGV_Gold_Standard_June_2021_gssvL23228) 40: Dosage sensitivity unlikely 0 2021-08-04
12p13.2 population region (DGV_Gold_Standard_June_2021_gssvL23231) 40: Dosage sensitivity unlikely 0 2021-08-04
12p11.23 population region (DGV_Gold_Standard_June_2021_gssvL23860) 40: Dosage sensitivity unlikely 0 2021-08-04
12p11.1 population region (DGV_Gold_Standard_June_2021_gssvL24290) 40: Dosage sensitivity unlikely 0 2021-08-04
12q23.3 population region (DGV_Gold_Standard_June_2021_gssvL26928) 40: Dosage sensitivity unlikely 0 2021-08-04
12p13.2 population region (DGV_Gold_Standard_June_2021_gssvL23179) 40: Dosage sensitivity unlikely 0 2021-08-04
12p13.31 population region (DGV_Gold_Standard_June_2021_gssvG7792) 0 40: Dosage sensitivity unlikely 2021-08-04
12p13.31 population region (DGV_Gold_Standard_June_2021_gssvG7850) 0 40: Dosage sensitivity unlikely 2021-08-04
13q21.1 population region (DGV_Gold_Standard_June_2021_gssvL30434) 40: Dosage sensitivity unlikely 0 2021-08-04
13q21.33 population region (DGV_Gold_Standard_June_2021_gssvL31119) 40: Dosage sensitivity unlikely 0 2021-08-04
16p11.2 population region (gnomAD-SV_v2.1_DEL_16_153568) 40: Dosage sensitivity unlikely 0 2021-08-04
13q12.11 population region (DGV_Gold_Standard_June_2021_gssvG9718) 0 40: Dosage sensitivity unlikely 2021-08-04
16p11.2 population region (gnomAD-SV_v2.1_DEL_16_153573) 40: Dosage sensitivity unlikely 0 2021-08-04
16p11.2 population region (gnomAD-SV_v2.1_DUP_16_42022) 0 40: Dosage sensitivity unlikely 2021-08-04
16p11.2 population region (gnomAD-SV_v2.1_DEL_16_153860) 40: Dosage sensitivity unlikely 0 2021-08-04
16q22.1 population region (gnomAD-SV_v2.1_DUP_16_42449) 0 40: Dosage sensitivity unlikely 2021-08-04
14q32.33 population region (DGV_Gold_Standard_June_2021_gssvL37313) 40: Dosage sensitivity unlikely 0 2021-08-04
14q32.33 population region (DGV_Gold_Standard_June_2021_gssvL37239) 40: Dosage sensitivity unlikely 0 2021-08-04
14q11.2 population region (DGV_Gold_Standard_June_2021_gssvG10810) 0 40: Dosage sensitivity unlikely 2021-08-04
14q13.2 population region (DGV_Gold_Standard_June_2021_gssvL34350) 40: Dosage sensitivity unlikely 0 2021-08-04
17p11.2 population region (gnomAD-SV_v2.1_DEL_17_159047) 40: Dosage sensitivity unlikely 0 2021-08-04
17p11.2 population region (gnomAD-SV_v2.1_DEL_17_159095) 40: Dosage sensitivity unlikely 0 2021-08-04
14q11.2 population region (DGV_Gold_Standard_June_2021_gssvL33589) 40: Dosage sensitivity unlikely 0 2021-08-04
14q11.2 population region (DGV_Gold_Standard_June_2021_gssvL33520) 40: Dosage sensitivity unlikely 0 2021-08-04
14q11.2 population region (DGV_Gold_Standard_June_2021_gssvG10817) 0 40: Dosage sensitivity unlikely 2021-08-04
17q21.2 population region (gnomAD-SV_v2.1_DEL_17_160287) 40: Dosage sensitivity unlikely 0 2021-08-04
17q21.2 population region (gnomAD-SV_v2.1_DEL_17_160290) 40: Dosage sensitivity unlikely 0 2021-08-04
17q21.2 population region (gnomAD-SV_v2.1_DUP_17_44064) 0 40: Dosage sensitivity unlikely 2021-08-04
17q21.31 population region (gnomAD-SV_v2.1_DEL_17_160658) 40: Dosage sensitivity unlikely 0 2021-08-04
17q21.31 population region (gnomAD-SV_v2.1_DEL_17_160659) 40: Dosage sensitivity unlikely 0 2021-08-04
17q21.31 population region (gnomAD-SV_v2.1_DEL_17_160662) 40: Dosage sensitivity unlikely 0 2021-08-04
17q21.31 population region (gnomAD-SV_v2.1_DEL_17_160663) 40: Dosage sensitivity unlikely 0 2021-08-04
14q11.2 population region (DGV_Gold_Standard_June_2021_gssvG10827) 0 40: Dosage sensitivity unlikely 2021-08-04
17q21.31 population region (gnomAD-SV_v2.1_DEL_17_160664) 40: Dosage sensitivity unlikely 0 2021-08-04
14q11.2 population region (DGV_Gold_Standard_June_2021_gssvG10899) 0 40: Dosage sensitivity unlikely 2021-08-04
14q32.33 population region (DGV_Gold_Standard_June_2021_gssvG12097) 0 40: Dosage sensitivity unlikely 2021-08-04
17q21.31 population region (gnomAD-SV_v2.1_DEL_17_160670) 40: Dosage sensitivity unlikely 0 2021-08-04
14q32.33 population region (DGV_Gold_Standard_June_2021_gssvG12117) 0 40: Dosage sensitivity unlikely 2021-08-04
19p13.2 population region (gnomAD-SV_v2.1_DUP_19_46817) 0 40: Dosage sensitivity unlikely 2021-08-04
19q13.12 population region (gnomAD-SV_v2.1_DEL_19_172006) 40: Dosage sensitivity unlikely 0 2021-08-04
19q13.31 population region (gnomAD-SV_v2.1_DEL_19_172625) 40: Dosage sensitivity unlikely 0 2021-08-04
19q13.31 population region (gnomAD-SV_v2.1_DEL_19_172626) 40: Dosage sensitivity unlikely 0 2021-08-04
14q32.33 population region (DGV_Gold_Standard_June_2021_gssvG12133) 0 40: Dosage sensitivity unlikely 2021-08-04
19q13.41 population region (gnomAD-SV_v2.1_DEL_19_173443) 40: Dosage sensitivity unlikely 0 2021-08-04
19q13.41 population region (gnomAD-SV_v2.1_DEL_19_173445) 40: Dosage sensitivity unlikely 0 2021-08-04
19q13.41 population region (gnomAD-SV_v2.1_DEL_19_173549) 40: Dosage sensitivity unlikely 0 2021-08-04
14q32.33 population region (DGV_Gold_Standard_June_2021_gssvG12150) 0 40: Dosage sensitivity unlikely 2021-08-04
15q13.2 population region (DGV_Gold_Standard_June_2021_gssvG12633) 0 40: Dosage sensitivity unlikely 2021-08-04
15q11.2 population region (DGV_Gold_Standard_June_2021_gssvG12359) 0 40: Dosage sensitivity unlikely 2021-08-04
16p12.1 population region (DGV_Gold_Standard_June_2021_gssvL43366) 40: Dosage sensitivity unlikely 0 2021-08-04
19q13.42 population region (gnomAD-SV_v2.1_DEL_19_173749) 40: Dosage sensitivity unlikely 0 2021-08-04
16p13.3 population region (DGV_Gold_Standard_June_2021_gssvL41949) 40: Dosage sensitivity unlikely 0 2021-08-04
19q13.42 population region (gnomAD-SV_v2.1_DEL_19_173800) 40: Dosage sensitivity unlikely 0 2021-08-04
16p12.2 population region (DGV_Gold_Standard_June_2021_gssvG14372) 0 40: Dosage sensitivity unlikely 2021-08-04
19q13.42 population region (gnomAD-SV_v2.1_DEL_19_173801) 40: Dosage sensitivity unlikely 0 2021-08-04
16q22.2 population region (DGV_Gold_Standard_June_2021_gssvG15245) 0 40: Dosage sensitivity unlikely 2021-08-04
19q13.42 population region (gnomAD-SV_v2.1_DEL_19_173802) 40: Dosage sensitivity unlikely 0 2021-08-04
16q23.1 population region (DGV_Gold_Standard_June_2021_gssvG15270) 0 40: Dosage sensitivity unlikely 2021-08-04
19q13.42 population region (gnomAD-SV_v2.1_DEL_19_173803) 40: Dosage sensitivity unlikely 0 2021-08-04
17q21.2 population region (DGV_Gold_Standard_June_2021_gssvL49383) 40: Dosage sensitivity unlikely 0 2021-08-04
17q21.2 population region (DGV_Gold_Standard_June_2021_gssvL49384) 40: Dosage sensitivity unlikely 0 2021-08-04
19q13.42 population region (gnomAD-SV_v2.1_DEL_19_173805) 40: Dosage sensitivity unlikely 0 2021-08-04
17q21.2 population region (DGV_Gold_Standard_June_2021_gssvL49386) 40: Dosage sensitivity unlikely 0 2021-08-04
19q13.42 population region (gnomAD-SV_v2.1_DEL_19_173806) 40: Dosage sensitivity unlikely 0 2021-08-04
17q21.2 population region (DGV_Gold_Standard_June_2021_gssvL49379) 40: Dosage sensitivity unlikely 0 2021-08-04
17q12 population region (DGV_Gold_Standard_June_2021_gssvL49126) 40: Dosage sensitivity unlikely 0 2021-08-04
17p11.2 population region (DGV_Gold_Standard_June_2021_gssvL48375) 40: Dosage sensitivity unlikely 0 2021-08-04
17p11.2 population region (DGV_Gold_Standard_June_2021_gssvL48476) 40: Dosage sensitivity unlikely 0 2021-08-04
17p11.2 population region (DGV_Gold_Standard_June_2021_gssvL48488) 40: Dosage sensitivity unlikely 0 2021-08-04
17p11.2 population region (DGV_Gold_Standard_June_2021_gssvG16012) 0 40: Dosage sensitivity unlikely 2021-08-04
17p11.2 population region (DGV_Gold_Standard_June_2021_gssvG16017) 0 40: Dosage sensitivity unlikely 2021-08-04
17p11.2 population region (DGV_Gold_Standard_June_2021_gssvG16067) 0 40: Dosage sensitivity unlikely 2021-08-04
17p11.2 population region (DGV_Gold_Standard_June_2021_gssvG16095) 0 40: Dosage sensitivity unlikely 2021-08-04
17q12 population region (DGV_Gold_Standard_June_2021_gssvG16427) 0 40: Dosage sensitivity unlikely 2021-08-04
17q21.2 population region (DGV_Gold_Standard_June_2021_gssvG16538) 0 40: Dosage sensitivity unlikely 2021-08-04
18p11.31 population region (DGV_Gold_Standard_June_2021_gssvL51911) 40: Dosage sensitivity unlikely 0 2021-08-04
18p11.22 population region (DGV_Gold_Standard_June_2021_gssvL52196) 40: Dosage sensitivity unlikely 0 2021-08-04
18q11.2 population region (DGV_Gold_Standard_June_2021_gssvL52661) 40: Dosage sensitivity unlikely 0 2021-08-04
18p11.21 population region (DGV_Gold_Standard_June_2021_gssvG17388) 0 40: Dosage sensitivity unlikely 2021-08-04
18q21.1 population region (DGV_Gold_Standard_June_2021_gssvG17872) 0 40: Dosage sensitivity unlikely 2021-08-04
19q13.42 population region (DGV_Gold_Standard_June_2021_gssvL59370) 40: Dosage sensitivity unlikely 0 2021-08-04
19q13.32 population region (DGV_Gold_Standard_June_2021_gssvL58890) 40: Dosage sensitivity unlikely 0 2021-08-04
19p13.12 population region (DGV_Gold_Standard_June_2021_gssvL57062) 40: Dosage sensitivity unlikely 0 2021-08-04
19p12 population region (DGV_Gold_Standard_June_2021_gssvL57316) 40: Dosage sensitivity unlikely 0 2021-08-04
19q13.42 population region (DGV_Gold_Standard_June_2021_gssvG19479) 0 40: Dosage sensitivity unlikely 2021-08-04
19p12 population region (DGV_Gold_Standard_June_2021_gssvL57428) 40: Dosage sensitivity unlikely 0 2021-08-04
20q11.21 population region (DGV_Gold_Standard_June_2021_gssvL72187) 40: Dosage sensitivity unlikely 0 2021-08-04
20p11.22 population region (DGV_Gold_Standard_June_2021_gssvL71898) 40: Dosage sensitivity unlikely 0 2021-08-04
21q22.3 population region (DGV_Gold_Standard_June_2021_gssvL76000) 40: Dosage sensitivity unlikely 0 2021-08-04
21q22.3 population region (DGV_Gold_Standard_June_2021_gssvL75982) 40: Dosage sensitivity unlikely 0 2021-08-04
21q11.2 population region (DGV_Gold_Standard_June_2021_gssvL74506) 40: Dosage sensitivity unlikely 0 2021-08-04
19q13.42 population region (gnomAD-SV_v2.1_DEL_19_173807) 40: Dosage sensitivity unlikely 0 2021-08-03
19q13.42 population region (gnomAD-SV_v2.1_DEL_19_173809) 40: Dosage sensitivity unlikely 0 2021-08-03
19q13.42 population region (gnomAD-SV_v2.1_DEL_19_173811) 40: Dosage sensitivity unlikely 0 2021-08-03
19q13.42 population region (gnomAD-SV_v2.1_DEL_19_173812) 40: Dosage sensitivity unlikely 0 2021-08-03
19q13.42 population region (gnomAD-SV_v2.1_DEL_19_173816) 40: Dosage sensitivity unlikely 0 2021-08-03
19q13.42 population region (gnomAD-SV_v2.1_DEL_19_173817) 40: Dosage sensitivity unlikely 0 2021-08-03
21q11.2 population region (gnomAD-SV_v2.1_DEL_21_178681) 40: Dosage sensitivity unlikely 0 2021-08-03
21q11.2 population region (gnomAD-SV_v2.1_DEL_21_178682) 40: Dosage sensitivity unlikely 0 2021-08-03
21q11.2 population region (gnomAD-SV_v2.1_DEL_21_178683) 40: Dosage sensitivity unlikely 0 2021-08-03
21q22.3 population region (gnomAD-SV_v2.1_DEL_21_181010) 40: Dosage sensitivity unlikely 0 2021-08-03
22q11.21 population region (gnomAD-SV_v2.1_DEL_22_181316) 40: Dosage sensitivity unlikely 0 2021-08-03
22q11.21 population region (gnomAD-SV_v2.1_DEL_22_181446) 40: Dosage sensitivity unlikely 0 2021-08-03
22q11.21 population region (gnomAD-SV_v2.1_DEL_22_181452) 40: Dosage sensitivity unlikely 0 2021-08-03
22q11.21 population region (gnomAD-SV_v2.1_DEL_22_181459) 40: Dosage sensitivity unlikely 0 2021-08-03
22q11.21 population region (gnomAD-SV_v2.1_DEL_22_181532) 40: Dosage sensitivity unlikely 0 2021-08-03
22q11.23 population region (gnomAD-SV_v2.1_DEL_22_181670) 40: Dosage sensitivity unlikely 0 2021-08-03
22q11.23 population region (gnomAD-SV_v2.1_DEL_22_181679) 40: Dosage sensitivity unlikely 0 2021-08-03
22q11.23 population region (gnomAD-SV_v2.1_DEL_22_181680) 40: Dosage sensitivity unlikely 0 2021-08-03
22q11.23 population region (gnomAD-SV_v2.1_DEL_22_181682) 40: Dosage sensitivity unlikely 0 2021-08-03
22q13.1 population region (gnomAD-SV_v2.1_DEL_22_182715) 40: Dosage sensitivity unlikely 0 2021-08-03
Xp11.23 population region (gnomAD-SV_v2.1_DEL_X_186156) 40: Dosage sensitivity unlikely 0 2021-08-03
Xp11.23 population region (gnomAD-SV_v2.1_DUP_X_53149) 0 40: Dosage sensitivity unlikely 2021-08-03
Xp11.23 population region (gnomAD-SV_v2.1_DUP_X_53151) 0 40: Dosage sensitivity unlikely 2021-08-03
Xp11.23 population region (gnomAD-SV_v2.1_DUP_X_53155) 0 40: Dosage sensitivity unlikely 2021-08-03
Xp11.23 population region (gnomAD-SV_v2.1_DUP_X_53157) 0 40: Dosage sensitivity unlikely 2021-08-03
Xq24 population region (gnomAD-SV_v2.1_DEL_X_189262) 40: Dosage sensitivity unlikely 0 2021-08-03
Xq24 population region (gnomAD-SV_v2.1_DEL_X_189263) 40: Dosage sensitivity unlikely 0 2021-08-03
Xq26.3 population region (gnomAD-SV_v2.1_DEL_X_189886) 40: Dosage sensitivity unlikely 0 2021-08-03
Xq26.3 population region (gnomAD-SV_v2.1_DEL_X_189893) 40: Dosage sensitivity unlikely 0 2021-08-03
Xq28 population region (gnomAD-SV_v2.1_DEL_X_190688) 40: Dosage sensitivity unlikely 0 2021-08-03
Xq28 population region (gnomAD-SV_v2.1_DEL_X_190749) 40: Dosage sensitivity unlikely 0 2021-08-03
Xq28 population region (gnomAD-SV_v2.1_DEL_X_190964) 40: Dosage sensitivity unlikely 0 2021-08-03
Yq11.223 population region (gnomAD-SV_v2.1_DUP_Y_55049) 0 40: Dosage sensitivity unlikely 2021-08-03
Yq11.223 population region (gnomAD-SV_v2.1_DUP_Y_55057) 0 40: Dosage sensitivity unlikely 2021-08-03
22q11.23 population region (DGV_Gold_Standard_June_2021_gssvL77238) 40: Dosage sensitivity unlikely 0 2021-08-03
22q11.23 population region (DGV_Gold_Standard_June_2021_gssvL77244) 40: Dosage sensitivity unlikely 0 2021-08-03
22q11.22 population region (DGV_Gold_Standard_June_2021_gssvL77120) 40: Dosage sensitivity unlikely 0 2021-08-03
22q11.21 population region (DGV_Gold_Standard_June_2021_gssvL76981) 40: Dosage sensitivity unlikely 0 2021-08-03
22q11.21 population region (DGV_Gold_Standard_June_2021_gssvL77047) 40: Dosage sensitivity unlikely 0 2021-08-03
22q11.21 population region (DGV_Gold_Standard_June_2021_gssvL77049) 40: Dosage sensitivity unlikely 0 2021-08-03
22q11.21 population region (DGV_Gold_Standard_June_2021_gssvL77050) 40: Dosage sensitivity unlikely 0 2021-08-03
22q11.23 population region (DGV_Gold_Standard_June_2021_gssvG24415) 0 40: Dosage sensitivity unlikely 2021-08-03
Xq24 population region (DGV_Gold_Standard_June_2021_gssvG41158) 0 40: Dosage sensitivity unlikely 2021-08-03
Xq28 population region (DGV_Gold_Standard_June_2021_gssvG41365) 0 40: Dosage sensitivity unlikely 2021-08-03
Xp11.23 population region (DGV_Gold_Standard_June_2021_gssvL136075) 40: Dosage sensitivity unlikely 0 2021-08-03
Xq21.1 population region (DGV_Gold_Standard_June_2021_gssvL136501) 40: Dosage sensitivity unlikely 0 2021-08-03
Xq27.3 population region (DGV_Gold_Standard_June_2021_gssvL137799) 40: Dosage sensitivity unlikely 0 2021-08-03
Yq11.223 population region (DGV_Gold_Standard_June_2021_gssvL138419) 40: Dosage sensitivity unlikely 0 2021-08-03
Yq11.223 population region (DGV_Gold_Standard_June_2021_gssvL138428) 40: Dosage sensitivity unlikely 0 2021-08-03
Xp22.31 recurrent region (includes STS) 3 40: Dosage sensitivity unlikely 2021-07-01

Genes/Regions with Updated Scores

Gene/Region Name Old score New score Date changed
MEIS2 Haploinsufficiency score: 2 Haploinsufficiency score: 3 09/03/2021
POLR1D Haploinsufficiency score: 2 Haploinsufficiency score: 3 06/23/2021
HMGA2 Haploinsufficiency score: 3 Haploinsufficiency score: 1 09/14/2021

Gene/Region Curation Stats

Review Complete 1,968
Under Primary Review 78
Under Secondary Review 15
Under Group Review 35
Awaiting Review 42,284

Curation Team

  • Joo Wook Ahn
  • Erica Andersen
  • Swaroop Aradhya
  • Tracy Brandt
  • Rachel Burnside
  • Oscar Cano
  • Yang Cao
  • Laura Conlin
  • John Herriges
  • Ted Higginbotham
  • Benjamin Hilton
  • Vaidehi Jobanputra
  • Sibel Kantarci
  • Hutton Kearney
  • Wahab Khan
  • Kristy Lee
  • Guang Li
  • Cindy Lorentz
  • Christa Martin
  • Con Ngo
  • Karen Ouyang
  • Daniel Pineda-Alvarez
  • Prabakaran Paulraj
  • Erin Rooney Riggs
  • Hiba Risheg
  • Deborah Ritter
  • Ross Rowsey
  • Yiping Shen
  • Marsha Speevak
  • Meng Su
  • Erik Thorland
  • Lei Zhang

Past Contributors

  • Erin Baldwin
  • Damien Bruno
  • Trent Burgess
  • Colleen Carlston
  • Bo Hong
  • Vanessa Horner
  • Erin Baldwin Kaminsky
  • Una Maye
  • Dominic McMullan
  • Moises Serrano
  • Sarah South
  • Jim Stavropoulos
  • Karen Wain
  • Eli Williams