A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3221693



Internal ID22365988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:93283617..93290235hg38UCSC Ensembl
Outerchr11:93016783..93023401hg19UCSC Ensembl
Cytoband11q21
Allele length
AssemblyAllele length
hg386619
hg196619
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14254381, nssv14254383, nssv14254382
SamplesNA19239, HG00731, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3221693
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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