A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv582343



Internal ID16369752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:81186671..81259010hg38UCSC Ensembl
Innerchr2:81413795..81486134hg19UCSC Ensembl
Innerchr2:81267306..81339645hg18UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3872340
hg1972340
hg1872340
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv913800
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv582343
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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