A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1034480



Internal ID18777014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7409831..7873159hg38UCSC Ensembl
Innerchr8:7267353..7730681hg19UCSC Ensembl
Innerchr8:7254763..7768091hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38463329
hg19463329
hg18513329
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6936n100
Supporting Variantsnssv3679758, nssv3755269, nssv3755268, nssv3679759
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)nsv1034480
Frequency
Sample Size29084
Observed Gain1
Observed Loss3
Observed Complex0
Frequencyn/a


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