A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv697542



Internal ID15434194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:47362895..47373967hg38UCSC Ensembl
Innerchr2:47590034..47601106hg19UCSC Ensembl
Innerchr2:47443538..47454610hg18UCSC Ensembl
Innerchr2:47501685..47512757hg17UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3811073
hg1911073
hg1811073
hg1711073
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv520660
Supporting Variants
Samples
Known GenesEPCAM
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv697542
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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