A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv555181



Internal ID15995904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:63872409..64015880hg38UCSC Ensembl
Innerchr11:63639881..63783352hg19UCSC Ensembl
Innerchr11:63396457..63539928hg18UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg38143472
hg19143472
hg18143472
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv777144
Samples
Known GenesCOX8A, MACROD1, MARK2, NAA40, OTUB1, RCOR2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv555181
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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