A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv555287



Internal ID16342696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:68460272..68460777hg38UCSC Ensembl
Innerchr11:68227740..68228245hg19UCSC Ensembl
Innerchr11:67984316..67984821hg18UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg38506
hg19506
hg18506
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1985n54
Supporting Variantsnssv778620
Samples
Known GenesPPP6R3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv555287
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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