A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3679688



Internal ID18631283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7397514..7941317hg38UCSC Ensembl
Innerchr8:7255036..7798839hg19UCSC Ensembl
Innerchr8:7242446..7836249hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38543804
hg19543804
hg18593804
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1016821
Supporting Variants
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4A, DEFB4B, FAM90A10P, FAM90A7P, PRR23D1, PRR23D2, SPAG11A, SPAG11B, ZNF705B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3679688
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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