A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv610102



Internal ID16050825
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7788513..7895029hg38UCSC Ensembl
Innerchr8:7646035..7752551hg19UCSC Ensembl
Innerchr8:7683445..7789961hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38106517
hg19106517
hg18106517
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1105811, nssv1105812
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4A, SPAG11A, SPAG11B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv610102
Frequency
Sample Size17421
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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