A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv566130



Internal ID16006853
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:104865139..104866043hg38UCSC Ensembl
Innerchr14:105331476..105332380hg19UCSC Ensembl
Innerchr14:104402521..104403425hg18UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38905
hg19905
hg18905
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3970n54
Supporting Variantsnssv834704, nssv834703, nssv834702
Samples
Known GenesCEP170B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv566130
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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