A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1105820



Internal ID15612320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7788513..7957257hg38UCSC Ensembl
Innerchr8:7646035..7814779hg19UCSC Ensembl
Innerchr8:7683445..7852189hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38168745
hg19168745
hg18168745
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv610107
Supporting Variants
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4A, FAM66E, SPAG11A, SPAG11B, ZNF705B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1105820
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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