A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3214731



Internal ID22361297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:95427548..95448652hg38UCSC Ensembl
Outerchr11:95160712..95181816hg19UCSC Ensembl
Cytoband11q21
Allele length
AssemblyAllele length
hg3821105
hg1921105
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14253609, nssv14253610, nssv14253611
SamplesNA19238, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3214731
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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