A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv566105



Internal ID16006828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:104863421..104865658hg38UCSC Ensembl
Innerchr14:105329758..105331995hg19UCSC Ensembl
Innerchr14:104400803..104403040hg18UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg382238
hg192238
hg182238
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3965n54
Supporting Variantsnssv834647, nssv834648
Samples
Known GenesCEP170B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv566105
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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