A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv904626



Internal ID15851896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:31375957..31595187hg38UCSC Ensembl
Innerchr2:31598823..31820256hg19UCSC Ensembl
Innerchr2:31452327..31673760hg18UCSC Ensembl
Cytoband2p23.1
Allele length
AssemblyAllele length
hg38219231
hg19221434
hg18221434
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv581269
Supporting Variants
Samples
Known GenesSRD5A2, XDH
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv904626
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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