A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv691991



Internal ID15428643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:172909613..172914914hg38UCSC Ensembl
Innerchr5:172336616..172341917hg19UCSC Ensembl
Innerchr5:172269222..172274523hg18UCSC Ensembl
Innerchr5:172269222..172274523hg17UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg385302
hg195302
hg185302
hg175302
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv515804
Supporting Variants
Samples
Known GenesERGIC1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv691991
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer