A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1015189



Internal ID18757724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7397514..7888834hg38UCSC Ensembl
Innerchr8:7255036..7746356hg19UCSC Ensembl
Innerchr8:7242446..7783766hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38491321
hg19491321
hg18541321
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6935n100
Supporting Variantsnssv3679678, nssv3755237
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4B, 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)nsv1015189
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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