A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1105747



Internal ID15612247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7397983..7945154hg38UCSC Ensembl
Innerchr8:7255505..7802676hg19UCSC Ensembl
Innerchr8:7242915..7840086hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38547172
hg19547172
hg18597172
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv610059
Supporting Variants
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4A, DEFB4B, FAM90A10P, FAM90A7P, PRR23D1, PRR23D2, SPAG11A, SPAG11B, ZNF705B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1105747
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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