A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1105743



Internal ID15612243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7397983..7887023hg38UCSC Ensembl
Innerchr8:7255505..7744545hg19UCSC Ensembl
Innerchr8:7242915..7781955hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38489041
hg19489041
hg18539041
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv610056
Supporting Variants
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4B, FAM90A10P, FAM90A7P, PRR23D1, PRR23D2, SPAG11A, SPAG11B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1105743
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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