A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv566112



Internal ID16006835
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:104864865..104865817hg38UCSC Ensembl
Innerchr14:105331202..105332154hg19UCSC Ensembl
Innerchr14:104402247..104403199hg18UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38953
hg19953
hg18953
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3967n54
Supporting Variantsnssv834669, nssv834667, nssv834670, nssv834668, nssv834666, nssv834671
Samples
Known GenesCEP170B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv566112
Frequency
Sample Size17421
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer