A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3212848



Internal ID22359972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:68664873..68744197hg38UCSC Ensembl
Outerchr13:69239005..69318329hg19UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg3879325
hg1979325
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14256544
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3212848
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