A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3236621



Internal ID22373638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:20233996..20292185hg38UCSC Ensembl
Outerchr14:20702155..20760344hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg382294
hg192294
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14258926, nssv14258927, nssv14258928
SamplesNA19238, HG00731, HG00733
Known GenesOR11H4, TTC5
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3236621
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer