A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3236870



Internal ID22373717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:67218842..67283876hg38UCSC Ensembl
Outerchr11:66986313..67051347hg19UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg382266
hg192266
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14255032, nssv14255035, nssv14255030, nssv14255034, nssv14255036, nssv14255028, nssv14255033, nssv14255029, nssv14255031
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesADRBK1, KDM2A
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3236870
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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