A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3213598



Internal ID22360496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:33731867..33750041hg38UCSC Ensembl
Outerchr15:34024068..34042242hg19UCSC Ensembl
Cytoband15q14
Allele length
AssemblyAllele length
hg3818175
hg1918175
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14258468
SamplesHG00513
Known GenesRYR3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3213598
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