A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv610080



Internal ID16050803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7486284..7495430hg38UCSC Ensembl
Innerchr8:7343806..7352952hg19UCSC Ensembl
Innerchr8:7331216..7340362hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg389147
hg199147
hg189147
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11922n54
Supporting Variantsnssv1105780, nssv1105781, nssv1105782
Samples
Known GenesDEFB105A, DEFB105B, DEFB106A, DEFB106B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv610080
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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