A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv567242



Internal ID16354651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20189043..20419898hg38UCSC Ensembl
Innerchr15:20394296..20625151hg19UCSC Ensembl
Innerchr15:18654310..18885165hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38230856
hg19230856
hg18230856
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4178n54
Supporting Variantsnssv836995
Samples
Known GenesCHEK2P2, HERC2P3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv567242
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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