A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3679025



Internal ID18977306
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7392846..7783985hg38UCSC Ensembl
Innerchr8:7250368..7641507hg19UCSC Ensembl
Innerchr8:7237778..7678917hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38391140
hg19391140
hg18441140
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1029741
Supporting Variants
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4B, FAM90A10P, FAM90A7P, PRR23D1, PRR23D2, SPAG11B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3679025
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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