A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1105734



Internal ID15612234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7397983..7521515hg38UCSC Ensembl
Innerchr8:7255505..7379037hg19UCSC Ensembl
Innerchr8:7242915..7366447hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38123533
hg19123533
hg18123533
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv610054
Supporting Variants
Samples
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB4B, SPAG11B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1105734
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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