A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1105760



Internal ID15612260
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7418480..7536511hg38UCSC Ensembl
Innerchr8:7276002..7394033hg19UCSC Ensembl
Innerchr8:7263412..7381443hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38118032
hg19118032
hg18118032
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv610065
Supporting Variants
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, SPAG11B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1105760
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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