A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14265762



Internal ID22134988
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3223597
Supporting Variants
SamplesHG00513
Known GenesBOK, BOK-AS1, THAP4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14265762
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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