A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3218268



Internal ID22363662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:45363436..45383983hg38UCSC Ensembl
Outerchr13:45937571..45958118hg19UCSC Ensembl
Cytoband13q14.13
Allele length
AssemblyAllele length
hg3820548
hg1920548
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2249n152
Supporting Variantsnssv14257076, nssv14257077
SamplesNA19238, HG00513
Known GenesTPT1-AS1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3218268
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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