A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3223216



Internal ID22367055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:109764457..109772264hg38UCSC Ensembl
Outerchr13:110416804..110424611hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg387808
hg197808
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14257443, nssv14257444, nssv14257445
SamplesHG00732, HG00733, HG00514
Known GenesIRS2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3223216
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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