A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216245



Internal ID22362300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:115677131..115714829hg38UCSC Ensembl
Outerchr8:116689358..116727056hg19UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg3837699
hg1937699
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14278879
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3216245
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