A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1150199



Internal ID15506636
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
Samples1780854095_A
Known GenesSRD5A2, XDH
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1150199
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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