A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv567233



Internal ID16354642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20188391..20419601hg38UCSC Ensembl
Innerchr15:20393644..20624854hg19UCSC Ensembl
Innerchr15:18653658..18884868hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38231211
hg19231211
hg18231211
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4178n54
Supporting Variantsnssv836982
Samples
Known GenesCHEK2P2, HERC2P3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv567233
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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