A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv567146



Internal ID16354555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20009274..21049934hg38UCSC Ensembl
Innerchr15:20214527..21255263hg19UCSC Ensembl
Innerchr15:18474541..19519922hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg381040661
hg191040737
hg181045382
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4164n54
Supporting Variantsnssv836879, nssv836878
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)nsv567146
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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