A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1105817



Internal ID15612317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7788513..7949609hg38UCSC Ensembl
Innerchr8:7646035..7807131hg19UCSC Ensembl
Innerchr8:7683445..7844541hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38161097
hg19161097
hg18161097
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv610106
Supporting Variants
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4A, SPAG11A, SPAG11B, ZNF705B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1105817
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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