A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv704105



Internal ID15440757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:23632026..23811308hg38UCSC Ensembl
Innerchr2:23854896..24034178hg19UCSC Ensembl
Innerchr2:23708401..23887682hg18UCSC Ensembl
Innerchr2:23766548..23945829hg17UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg38179283
hg19179283
hg18179282
hg17179282
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv527636
Supporting Variants
Samples
Known GenesATAD2B, KLHL29
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv704105
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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