A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv607933



Internal ID16048656
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:100642568..100767990hg38UCSC Ensembl
Innerchr7:100240191..100365613hg19UCSC Ensembl
Innerchr7:100078127..100203549hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38125423
hg19125423
hg18125423
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1091652
Samples
Known GenesACTL6B, EPO, GIGYF1, GNB2, POP7, ZAN
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv607933
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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