A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3677531



Internal ID18629126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7153346..7890165hg38UCSC Ensembl
Innerchr8:7010868..7747687hg19UCSC Ensembl
Innerchr8:6998278..7785097hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38736820
hg19736820
hg18786820
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1021612
Supporting Variants
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB109P1B, DEFB4B, FAM66B, FAM90A10P, FAM90A7P, LINC00965, PRR23D1, PRR23D2, SPAG11A, SPAG11B, USP17L1P, USP17L4, ZNF705G
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3677531
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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