A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3212329



Internal ID22359616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:143610534..143670279hg38UCSC Ensembl
Outerchr8:144692704..144752449hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3859746
hg1959746
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14278848, nssv14278847
SamplesHG00512, HG00513
Known GenesTSTA3, ZNF623
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3212329
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