A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv606896



Internal ID16047619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:49409771..49791123hg38UCSC Ensembl
Innerchr7:49449367..49830719hg19UCSC Ensembl
Innerchr7:49419913..49801265hg18UCSC Ensembl
Cytoband7p12.2
Allele length
AssemblyAllele length
hg38381353
hg19381353
hg18381353
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1083836
Samples
Known GenesVWC2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv606896
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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