A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv610082



Internal ID16050805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7486284..7497822hg38UCSC Ensembl
Innerchr8:7343806..7355344hg19UCSC Ensembl
Innerchr8:7331216..7342754hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3811539
hg1911539
hg1811539
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11922n54
Supporting Variantsnssv1105788, nssv1105786, nssv1105787
Samples
Known GenesDEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv610082
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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