A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3190489



Internal ID22341345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:81920921..81939003hg38UCSC Ensembl
Outerchr5:81216740..81234822hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg3818083
hg1918083
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14273605
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3190489
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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