A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv610042



Internal ID16050765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7351920..8244119hg38UCSC Ensembl
Innerchr8:7209442..8101641hg19UCSC Ensembl
Innerchr8:7196852..8139051hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38892200
hg19892200
hg18942200
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11914n54
Supporting Variantsnssv1105715
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB109P1B, DEFB4A, DEFB4B, FAM66B, FAM66E, FAM86B3P, FAM90A10P, FAM90A7P, MIR548I3, PRR23D1, PRR23D2, SPAG11A, SPAG11B, USP17L3, USP17L8, ZNF705B, ZNF705G
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv610042
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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