A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1026106



Internal ID18768638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7358339..7941317hg38UCSC Ensembl
Innerchr8:7215861..7798839hg19UCSC Ensembl
Innerchr8:7203271..7836249hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38582979
hg19582979
hg18632979
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6910n100
Supporting Variantsnssv3754979, nssv3678816
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4A, DEFB4B, FAM90A10P, FAM90A7P, PRR23D1, PRR23D2, SPAG11A, SPAG11B, ZNF705B, ZNF705G
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1026106
Frequency
Sample Size29084
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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