A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv566114



Internal ID16006837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:104864865..104865985hg38UCSC Ensembl
Innerchr14:105331202..105332322hg19UCSC Ensembl
Innerchr14:104402247..104403367hg18UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg381121
hg191121
hg181121
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3967n54
Supporting Variantsnssv834673, nssv834674
Samples
Known GenesCEP170B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv566114
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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