A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3236533



Internal ID22373611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:1851576..1894580hg38UCSC Ensembl
Outerchr16:1901577..1944581hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg381342
hg191342
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3111n152
Supporting Variantsnssv14260750, nssv14260751
SamplesNA19240, HG00514
Known GenesLINC00254, MEIOB
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3236533
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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