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1q44 population region (DGV_Gold_Standard_June_2021_gssvL8766) |
- 40
Haplo
Score - 0
Triplo
Score
Dosage Sensitivity Summary (Region)
Dosage ID:
ISCA-46576
Curation Status:
Complete
Issue Type:
Dosage Curation -
Region
Description:
GESV=gssvL8766
GENES=OR2T11
VARIANT TYPE=Loss
AF=5.47%
ORIGIN=DGV gold dataset (June 11, 2021)
NUMBER OF UNIQUE SAMPLES=15259
STUDIES=Coe2014,Cooper2011,1000GenomesPhase3
PLATFORMS=Affymetrix_6.0,Custom_Illumina_1.2M,Multiple_NGS_Sequencing
Breakpoint Type:
Variable
Haploinsufficiency:
Dosage Sensitivity Unlikely
(40)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
gnomAD Allele Frequency:
5.47%
Last Evaluated:
08/06/2021
Haploinsufficiency (HI) Score Details
HI Score:
40
HI Evidence Strength:
Dosage Sensitivity Unlikely
(Disclaimer)
HI Evidence Comments:
As part of an effort to identify genomic regions that are unlikely to be dosage sensitive, ClinGen queried the Database of Genomic Variants (DGV) gold standard GRCh37 data set (PMID: 24174537) (downloaded June 2021) for variants meeting the following criteria: passed DGV quality filters, characterized as either a deletion or duplication, >1 kb in size, includes at least one gene, and present at an allele frequency of >5% (with at least 2000 alleles tested). This region corresponds to a variant identified as meeting those criteria in DGV gold standard GRCh37; the DGV gold standard GRCh37 identifier for this variant is reflected in the title for reference. As of July 1st, 2021, there has been no reported relationship between the gene(s) included in this region and human disease. Given the high population frequency, this region has been classified as “dosage sensitivity unlikely”.
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000001.10)
(NC_000001.11)
