A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3218580



Internal ID22363876
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:3319942..3325010hg38UCSC Ensembl
Outerchr5:3320056..3325124hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg385734
hg195734
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14275962, nssv14275963
SamplesHG00731, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3218580
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