A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216498



Internal ID22362474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:8330137..8351550hg38UCSC Ensembl
Outerchr19:8395021..8416434hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3821414
hg1921414
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14263359
SamplesHG00731
Known GenesKANK3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3216498
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