A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1105713



Internal ID15612213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7342633..8178269hg38UCSC Ensembl
Innerchr8:7200155..8035791hg19UCSC Ensembl
Innerchr8:7187565..8073201hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38835637
hg19835637
hg18885637
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv610040
Supporting Variants
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB109P1B, DEFB4A, DEFB4B, FAM66B, FAM66E, FAM90A10P, FAM90A7P, MIR548I3, PRR23D1, PRR23D2, SPAG11A, SPAG11B, USP17L3, USP17L8, ZNF705B, ZNF705G
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1105713
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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