A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1031326



Internal ID18773860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7357077..7890165hg38UCSC Ensembl
Innerchr8:7214599..7747687hg19UCSC Ensembl
Innerchr8:7202009..7785097hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38533089
hg19533089
hg18583089
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6910n100
Supporting Variantsnssv3754157, nssv3678562, nssv3678563, nssv3678564
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4B, FAM90A10P, FAM90A7P, PRR23D1, PRR23D2, SPAG11A, SPAG11B, ZNF705G
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1031326
Frequency
Sample Size29084
Observed Gain3
Observed Loss1
Observed Complex0
Frequencyn/a


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