A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3754163



Internal ID18705758
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7357077..7918809hg38UCSC Ensembl
Innerchr8:7214599..7776331hg19UCSC Ensembl
Innerchr8:7202009..7813741hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38561733
hg19561733
hg18611733
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1015574
Supporting Variants
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4A, DEFB4B, FAM90A10P, FAM90A7P, PRR23D1, PRR23D2, SPAG11A, SPAG11B, ZNF705G
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3754163
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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