A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3219157



Internal ID22364267
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:14844788..14865958hg38UCSC Ensembl
Outerchr4:14846412..14867582hg19UCSC Ensembl
Cytoband4p15.33
Allele length
AssemblyAllele length
hg385522
hg195522
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14273466, nssv14273467, nssv14273468
SamplesNA19238, NA19239, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3219157
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