A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1033870



Internal ID18776403
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7124736..7930199hg38UCSC Ensembl
Innerchr8:6982258..7787721hg19UCSC Ensembl
Innerchr8:6969668..7825131hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38805464
hg19805464
hg18855464
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6882n100
Supporting Variantsnssv3677477
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB109P1B, DEFB4A, DEFB4B, FAM66B, FAM90A10P, FAM90A7P, LINC00965, PRR23D1, PRR23D2, SPAG11A, SPAG11B, USP17L1P, USP17L4, 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)nsv1033870
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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