A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv610084



Internal ID16050807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7488835..7495430hg38UCSC Ensembl
Innerchr8:7346357..7352952hg19UCSC Ensembl
Innerchr8:7333767..7340362hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg386596
hg196596
hg186596
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11923n54
Supporting Variantsnssv1105790
Samples
Known GenesDEFB105A, DEFB105B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv610084
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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