A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1016469



Internal ID18759004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7540351..7930151hg38UCSC Ensembl
Innerchr8:7397873..7787673hg19UCSC Ensembl
Innerchr8:7385283..7825083hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38389801
hg19389801
hg18439801
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6949n100
Supporting Variantsnssv3680725
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4A, FAM90A10P, FAM90A7P, PRR23D1, PRR23D2, SPAG11A, SPAG11B, ZNF705B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1016469
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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