A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv581281



Internal ID16022004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:32529919..32671988hg38UCSC Ensembl
Innerchr2:32754986..32897055hg19UCSC Ensembl
Innerchr2:32608490..32750559hg18UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg38142070
hg19142070
hg18142070
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1150202
SamplesHGDP00548
Known GenesBIRC6, MIR4765, MIR558, TTC27
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv581281
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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