A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1019482



Internal ID18762017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7312955..7896858hg38UCSC Ensembl
Innerchr8:7170477..7754380hg19UCSC Ensembl
Innerchr8:7157887..7791790hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38583904
hg19583904
hg18633904
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6911n100
Supporting Variantsnssv3677774
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB109P1B, DEFB4A, DEFB4B, FAM66B, FAM90A10P, FAM90A7P, PRR23D1, PRR23D2, SPAG11A, SPAG11B, USP17L1P, USP17L4, ZNF705G
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1019482
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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