A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv581514



Internal ID16368923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:40655262..40837684hg38UCSC Ensembl
Innerchr2:40882402..41064824hg19UCSC Ensembl
Innerchr2:40735906..40918328hg18UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg38182423
hg19182423
hg18182423
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1151048
Samples1780862310_A
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv581514
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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