A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv697502



Internal ID15087468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:55395689..55675881hg38UCSC Ensembl
Innerchr2:55622825..55903016hg19UCSC Ensembl
Innerchr2:55476329..55756520hg18UCSC Ensembl
Innerchr2:55534476..55814667hg17UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg38280193
hg19280192
hg18280192
hg17280192
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv520581
Supporting Variants
Samples
Known GenesCCDC104, CCDC88A, PNPT1, SMEK2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv697502
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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