A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv582347



Internal ID16369756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:81961370..82081308hg38UCSC Ensembl
Innerchr2:82188494..82308432hg19UCSC Ensembl
Innerchr2:82042005..82161943hg18UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg38119939
hg19119939
hg18119939
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6943n54
Supporting Variantsnssv1150773
SamplesHGDP01166
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv582347
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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