A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv566117



Internal ID16006840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:104864919..104865880hg38UCSC Ensembl
Innerchr14:105331256..105332217hg19UCSC Ensembl
Innerchr14:104402301..104403262hg18UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38962
hg19962
hg18962
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3966n54
Supporting Variantsnssv834678
Samples
Known GenesCEP170B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv566117
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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