A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv610104



Internal ID16050827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7788513..7935485hg38UCSC Ensembl
Innerchr8:7646035..7793007hg19UCSC Ensembl
Innerchr8:7683445..7830417hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38146973
hg19146973
hg18146973
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11930n54
Supporting Variantsnssv1105814
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)nsv610104
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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