A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv581274



Internal ID16021997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:32408622..32693045hg38UCSC Ensembl
Innerchr2:32633690..32918112hg19UCSC Ensembl
Innerchr2:32487194..32771616hg18UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg38284424
hg19284423
hg18284423
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv904632
Samples
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)nsv581274
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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