A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3229128



Internal ID22371073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:181426587..181438914hg38UCSC Ensembl
Outerchr5:180853588..180865915hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg382221
hg192221
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14276373
SamplesHG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3229128
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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