A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv567229



Internal ID16354638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20147366..21002347hg38UCSC Ensembl
Innerchr15:20352619..21207676hg19UCSC Ensembl
Innerchr15:18612633..19472335hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38854982
hg19855058
hg18859703
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4166n54
Supporting Variantsnssv836978
Samples
Known GenesCHEK2P2, CT60, CXADRP2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, NBEAP1, NF1P2, POTEB, POTEB2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv567229
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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