A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv555293



Internal ID16342702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:68460384..68460995hg38UCSC Ensembl
Innerchr11:68227852..68228463hg19UCSC Ensembl
Innerchr11:67984428..67985039hg18UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg38612
hg19612
hg18612
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1986n54
Supporting Variantsnssv778628
Samples
Known GenesPPP6R3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv555293
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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