A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14263821



Internal ID22294833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:188225124..188257535hg38UCSC Ensembl
Outerchr2:189089851..189122262hg19UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg3832412
hg1932412
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3196806
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14263821
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