A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3211163



Internal ID22358814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:129811645..129868059hg38UCSC Ensembl
Outerchr12:130296190..130352604hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3856415
hg1956415
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2077n152
Supporting Variantsnssv14255803, nssv14254813
SamplesHG00512, HG00732
Known GenesTMEM132D
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3211163
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