A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv610106



Internal ID16050829
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 StatusM
Merged Variantsdgv11930n54
Supporting Variantsnssv1105819, nssv1105818, nssv1105817
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)nsv610106
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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