A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1019013



Internal ID18761546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7357077..8000485hg38UCSC Ensembl
Innerchr8:7214599..7858007hg19UCSC Ensembl
Innerchr8:7202009..7895417hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38643409
hg19643409
hg18693409
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6909n100
Supporting Variantsnssv3678774
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB109P1B, DEFB4A, DEFB4B, FAM66E, FAM90A10P, FAM90A7P, PRR23D1, PRR23D2, SPAG11A, SPAG11B, USP17L3, USP17L8, ZNF705B, ZNF705G
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1019013
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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