A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv585056



Internal ID16372465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:241931913..242065217hg38UCSC Ensembl
Innerchr2:242874064..243007368hg19UCSC Ensembl
Innerchr2:242522737..242656041hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38133305
hg19133305
hg18133305
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7399n54
Supporting Variantsnssv934915, nssv934916, nssv934917
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv585056
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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