A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv566111



Internal ID16006834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:104864865..104865725hg38UCSC Ensembl
Innerchr14:105331202..105332062hg19UCSC Ensembl
Innerchr14:104402247..104403107hg18UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38861
hg19861
hg18861
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3967n54
Supporting Variantsnssv834665, nssv834664, nssv834662, nssv834663
Samples
Known GenesCEP170B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv566111
Frequency
Sample Size17421
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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