A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv566119



Internal ID16006842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:104865033..104865725hg38UCSC Ensembl
Innerchr14:105331370..105332062hg19UCSC Ensembl
Innerchr14:104402415..104403107hg18UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38693
hg19693
hg18693
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3969n54
Supporting Variantsnssv834680
Samples
Known GenesCEP170B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv566119
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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