A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv581269



Internal ID16021992
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 StatusM
Merged Variants
Supporting Variantsnssv1150199, nssv904626
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)nsv581269
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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