A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv566131



Internal ID16006854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:104865139..104874306hg38UCSC Ensembl
Innerchr14:105331476..105340643hg19UCSC Ensembl
Innerchr14:104402521..104411688hg18UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg389168
hg199168
hg189168
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3972n54
Supporting Variantsnssv834705
Samples
Known GenesCEP170B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv566131
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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