A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3245821



Internal ID22376254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:8062255..8119062hg38UCSC Ensembl
Outerchr16:8112257..8169064hg19UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg383028
hg193028
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14260122, nssv14260121, nssv14260120
SamplesNA19238, NA19240, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3245821
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