A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv566101



Internal ID16006824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:104863287..104865725hg38UCSC Ensembl
Innerchr14:105329624..105332062hg19UCSC Ensembl
Innerchr14:104400669..104403107hg18UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg382439
hg192439
hg182439
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv834642, nssv834643, nssv834641
Samples
Known GenesCEP170B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv566101
Frequency
Sample Size17421
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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