A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1024053



Internal ID18766586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7367834..7514711hg38UCSC Ensembl
Innerchr8:7225356..7372233hg19UCSC Ensembl
Innerchr8:7212766..7359643hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38146878
hg19146878
hg18146878
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6928n100
Supporting Variantsnssv3678879
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4B, SPAG11B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1024053
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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