A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv567247



Internal ID16354656
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20189043..21065301hg38UCSC Ensembl
Innerchr15:20394296..21270630hg19UCSC Ensembl
Innerchr15:18654310..19535289hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38876259
hg19876335
hg18880980
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4166n54
Supporting Variantsnssv837002
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)nsv567247
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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