A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv693242



Internal ID15429894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:56494872..56516532hg38UCSC Ensembl
Innerchr2:56722007..56743667hg19UCSC Ensembl
Innerchr2:56575511..56597171hg18UCSC Ensembl
Innerchr2:56633658..56655318hg17UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg3821661
hg1921661
hg1821661
hg1721661
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517645
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv693242
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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