A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3221763



Internal ID22366036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:101682912..101728932hg38UCSC Ensembl
Outerchr11:101553643..101599663hg19UCSC Ensembl
Cytoband11q22.1
Allele length
AssemblyAllele length
hg3846021
hg1946021
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14253616, nssv14253614, nssv14253615, nssv14253621, nssv14253617, nssv14253618, nssv14253613, nssv14253620, nssv14253619
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3221763
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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