A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv523717



Internal ID15451010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:170863055..170866416hg38UCSC Ensembl
Innerchr2:171719565..171722926hg19UCSC Ensembl
Innerchr2:171427811..171431172hg18UCSC Ensembl
Innerchr2:171545072..171548433hg17UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg383362
hg193362
hg183362
hg173362
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv699530
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv523717
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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