16p13.11 recurrent region (BP2-BP3) (includes MYH11) |
Dosage Sensitivity Summary (Region)
Dosage ID:
ISCA-37415
Curation Status:
Under Secondary Review
Issue Type:
Dosage Curation -
Region
Description:
The 16p13.11 region contains a cluster of low copy repeats that mediate recurrent copy number changes through non-allelic homologous recombination. This review refers to CNVs involving recurrent breakpoints (BPs) BP2 and BP3, sometimes referred to in the literature as Interval II. Larger CNVs extending into BP1 (Interval I) and/or BP4 (Interval III) are considered functionally similar to BP2-BP3 CNVs and are included in this review.
Note that genes used as landmarks are not necessarily causative of the phenotype(s) associated with the region.
Haploinsufficiency:
Under Secondary Review
Triplosensitivity:
Under Secondary Review
Last Evaluated:
Under Secondary Review
Haploinsufficiency (HI) Score Details
Review not yet complete.
Triplosensitivity (TS) Score Details
Review not yet complete.
Genomic View
Select assembly:
(NC_000016.9)
()