16p11.2 distal deletion (SH2B1)|16p11.2 distal duplication (SH2B1) |
Dosage Sensitivity Summary (Region)
Dosage ID:
ISCA-37412
Curation Status:
Awaiting Review
Issue Type:
Dosage Curation -
Region
Description:
DELETION INFO
ISCA P Value: ND EICHLER P Value: 0.0107
OMIM: N/A
SEG DUP mediated: Yes
REFS: none
DUPLICATION INFO
ISCA P Value: ND EICHLE P Value: 0.0484
OMIM: N/A
SEG DUP mediate: Yes
REFS: none
Haploinsufficiency:
Awaiting Review
Triplosensitivity:
Awaiting Review
Last Evaluated:
Awaiting Review
Haploinsufficiency (HI) Score Details
Review not yet complete.
Triplosensitivity (TS) Score Details
Review not yet complete.
Genomic View
GRCh37/hg19 chr16:28864998-29204998 (NC_000016.9)