A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1020224



Internal ID18762760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7433385..7930248hg38UCSC Ensembl
Innerchr8:7290907..7787770hg19UCSC Ensembl
Innerchr8:7278317..7825180hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38496864
hg19496864
hg18546864
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6935n100
Supporting Variantsnssv3756496
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)nsv1020224
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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