A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3224283



Internal ID22367762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:122461914..122489801hg38UCSC Ensembl
Outerchr11:122332622..122360509hg19UCSC Ensembl
Cytoband11q24.1
Allele length
AssemblyAllele length
hg3827888
hg1927888
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14253635, nssv14253637, nssv14253636, nssv14253640, nssv14253634, nssv14253639, nssv14253638
SamplesHG00512, NA19238, NA19239, HG00732, NA19240, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3224283
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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