A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1027638



Internal ID18770170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7409831..7941224hg38UCSC Ensembl
Innerchr8:7267353..7798746hg19UCSC Ensembl
Innerchr8:7254763..7836156hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38531394
hg19531394
hg18581394
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6911n100
Supporting Variantsnssv3679919, nssv3679920
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)nsv1027638
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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