A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253308



Internal ID22144306
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:33848251..33854055hg38UCSC Ensembl
Outerchr11:33869797..33875601hg19UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg385805
hg195805
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3225364
Supporting Variants
SamplesHG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253308
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