A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1027523



Internal ID18770055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7409831..7902059hg38UCSC Ensembl
Innerchr8:7267353..7759581hg19UCSC Ensembl
Innerchr8:7254763..7796991hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38492229
hg19492229
hg18542229
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6936n100
Supporting Variantsnssv3679808, nssv3679811, nssv3679812, nssv3679813, nssv3679810, nssv3679814, nssv3679809
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4A, 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)nsv1027523
Frequency
Sample Size29084
Observed Gain6
Observed Loss1
Observed Complex0
Frequencyn/a


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