A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3218574



Internal ID22363871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:113960779..113990347hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg3829569
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14256871, nssv14256873, nssv14256868, nssv14256872, nssv14256865, nssv14256870, nssv14256867, nssv14256866, nssv14256869
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3218574
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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