A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3220951



Internal ID22365494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:90145932..90160892hg38UCSC Ensembl
Outerchr5:89441749..89456709hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg386028
hg196028
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14276265, nssv14276264, nssv14276270, nssv14276266, nssv14276271, nssv14276267, nssv14276272, nssv14276269, nssv14276268
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3220951
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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