A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv567236



Internal ID16354645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20188391..20426741hg38UCSC Ensembl
Innerchr15:20393644..20631994hg19UCSC Ensembl
Innerchr15:18653658..18892008hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38238351
hg19238351
hg18238351
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4178n54
Supporting Variantsnssv836986, nssv836987, nssv836985, nssv836988, nssv836989
Samples
Known GenesCHEK2P2, HERC2P3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv567236
Frequency
Sample Size17421
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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