A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv692094



Internal ID15428746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:13062091..13138533hg38UCSC Ensembl
Innerchr2:13202216..13278658hg19UCSC Ensembl
Innerchr2:13119667..13196109hg18UCSC Ensembl
Innerchr2:13152814..13229256hg17UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg3876443
hg1976443
hg1876443
hg1776443
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516862
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv692094
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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