A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv610070



Internal ID16050793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7421349..7497822hg38UCSC Ensembl
Innerchr8:7278871..7355344hg19UCSC Ensembl
Innerchr8:7266281..7342754hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3876474
hg1976474
hg1876474
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11918n54
Supporting Variantsnssv1105768
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)nsv610070
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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