A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1105857



Internal ID15612357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7851992..7892867hg38UCSC Ensembl
Innerchr8:7709514..7750389hg19UCSC Ensembl
Innerchr8:7746924..7787799hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3840876
hg1940876
hg1840876
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv610132
Supporting Variants
Samples
Known GenesDEFB103A, DEFB103B, SPAG11A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1105857
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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