A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv567304



Internal ID16354713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20237999..20996787hg38UCSC Ensembl
Innerchr15:20443252..21202116hg19UCSC Ensembl
Innerchr15:18703266..19466775hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38758789
hg19758865
hg18763510
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4166n54
Supporting Variantsnssv837094
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)nsv567304
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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