A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv566106



Internal ID16006829
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:104863421..104865725hg38UCSC Ensembl
Innerchr14:105329758..105332062hg19UCSC Ensembl
Innerchr14:104400803..104403107hg18UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg382305
hg192305
hg182305
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3964n54
Supporting Variantsnssv834651, nssv834655, nssv834653, nssv834654, nssv834649, nssv834650, nssv834652
Samples
Known GenesCEP170B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv566106
Frequency
Sample Size17421
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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