A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3680458



Internal ID18632053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7477475..7888834hg38UCSC Ensembl
Innerchr8:7334997..7746356hg19UCSC Ensembl
Innerchr8:7322407..7783766hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38411360
hg19411360
hg18461360
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1027479
Supporting Variants
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, FAM90A10P, FAM90A7P, PRR23D1, PRR23D2, SPAG11A, SPAG11B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3680458
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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