A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14269371



Internal ID22146669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:35246657..35254076hg38UCSC Ensembl
Outerchr22:35642650..35650069hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg387420
hg197420
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3212674
Supporting Variants
SamplesHG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14269371
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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