A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv603640



Internal ID16044363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:71347604..72468161hg38UCSC Ensembl
Innerchr6:72057307..73177863hg19UCSC Ensembl
Innerchr6:72114028..73234584hg18UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg381120558
hg191120557
hg181120557
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1063666
Samples
Known GenesLINC00472, MIR30A, MIR30C2, RIMS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv603640
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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