A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1031683



Internal ID18774217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7409831..7930199hg38UCSC Ensembl
Innerchr8:7267353..7787721hg19UCSC Ensembl
Innerchr8:7254763..7825131hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38520369
hg19520369
hg18570369
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6936n100
Supporting Variantsnssv3679832, nssv3679835, nssv3679833, nssv3679838, nssv3679837, nssv3679831, nssv3679840, nssv3679834, nssv3679830, nssv3679836, nssv3679839
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)nsv1031683
Frequency
Sample Size29084
Observed Gain1
Observed Loss10
Observed Complex0
Frequencyn/a


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