A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3223597



Internal ID22367315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:241556057..241597645hg38UCSC Ensembl
Outerchr2:242495472..242537060hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg382159
hg192159
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14265762, nssv14265764, nssv14265763
SamplesHG00731, HG00733, HG00513
Known GenesBOK, BOK-AS1, THAP4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3223597
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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