A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3233311



Internal ID22372729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:86011357..86017480hg38UCSC Ensembl
Outerchr16:86044963..86051086hg19UCSC Ensembl
Cytoband16q24.1
Allele length
AssemblyAllele length
hg38938
hg19938
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14260314, nssv14260318, nssv14260316, nssv14260317, nssv14260315, nssv14260319
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3233311
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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