A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv566127



Internal ID16006850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:104865139..104865817hg38UCSC Ensembl
Innerchr14:105331476..105332154hg19UCSC Ensembl
Innerchr14:104402521..104403199hg18UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38679
hg19679
hg18679
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3968n54
Supporting Variantsnssv834697, nssv834695, nssv834699, nssv834694, nssv834696, nssv834698
Samples
Known GenesCEP170B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv566127
Frequency
Sample Size17421
Observed Gain5
Observed Loss1
Observed Complex0
Frequencyn/a


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