A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518293



Internal ID15445586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:40832025..41034852hg38UCSC Ensembl
Innerchr2:41059165..41261992hg19UCSC Ensembl
Innerchr2:40912669..41115496hg18UCSC Ensembl
Innerchr2:40970816..41173643hg17UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg38202828
hg19202828
hg18202828
hg17202828
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695724
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518293
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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