A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1105779



Internal ID15612279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7483655..7495430hg38UCSC Ensembl
Innerchr8:7341177..7352952hg19UCSC Ensembl
Innerchr8:7328587..7340362hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3811776
hg1911776
hg1811776
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv610079
Supporting Variants
Samples
Known GenesDEFB105A, DEFB105B, DEFB106A, DEFB106B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1105779
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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