A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv555224



Internal ID15995947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:66466552..66528643hg38UCSC Ensembl
Innerchr11:66234023..66296114hg19UCSC Ensembl
Innerchr11:65990599..66052690hg18UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg3862092
hg1962092
hg1862092
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1174657
Samples1780862448_A
Known GenesBBS1, DPP3, PELI3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv555224
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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