A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1023635



Internal ID18766168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7172456..7982308hg38UCSC Ensembl
Innerchr8:7029978..7839830hg19UCSC Ensembl
Innerchr8:7017388..7877240hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38809853
hg19809853
hg18859853
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6882n100
Supporting Variantsnssv3677678
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB109P1B, DEFB4A, DEFB4B, FAM66B, FAM66E, FAM90A10P, FAM90A7P, LINC00965, PRR23D1, PRR23D2, SPAG11A, SPAG11B, USP17L1P, USP17L3, USP17L4, USP17L8, 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)nsv1023635
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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