A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv610077



Internal ID16050800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7435392..7495430hg38UCSC Ensembl
Innerchr8:7292914..7352952hg19UCSC Ensembl
Innerchr8:7280324..7340362hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3860039
hg1960039
hg1860039
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1105777
Samples
Known GenesDEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, SPAG11B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv610077
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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