19q13.3 region (PSG gene cluster)
  • 40
    Haplo
    Score
  • 40
    Triplo
    Score

Region Facts

Region Name
19q13.3 region (PSG gene cluster)
Cytoband
19q13
Genomic Coordinates
GRCh37/hg19 chr19:43242796-43741310 NCBI Ensembl UCSC
GRCh38/hg38 chr19:42738644-43237158 NCBI Ensembl UCSC

Dosage Sensitivity Summary (Region)

Dosage ID:
ISCA-37483
Curation Status:
Complete
Issue Type:
Dosage Curation - Region
Description:
review of nstd45 regions
Haploinsufficiency:
Dosage Sensitivity Unlikely (40)
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Triplosensitivity:
Dosage Sensitivity Unlikely (40)
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Last Evaluated:
03/13/2014

Haploinsufficiency (HI) Score Details

HI Score:
40
HI Evidence Strength:
Dosage Sensitivity Unlikely (Disclaimer)
HI Evidence Comments:
This region contains genes that code for a number of pregnancy specific beta-1-glycoproteins (PSGs). To date, there is no evidence to suggest haploinsufficiency of this region. There are many entries of benign deletions involving part of this genomic region in the public CNV database (DGV) of 'normal' controls.

Triplosensitivity (TS) Score Details

TS Score:
40
TS Evidence Strength:
Dosage Sensitivity Unlikely (Disclaimer)
TS Evidence Comments:
To date, there is no published evidence to suggest triplosensitivity of this region. There are several entries of duplications involving part of this genomic region in the public CNV databases of 'normal' controls.

Genomic View

Select assembly: (NC_000019.9) ()