A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14254437



Internal ID22117252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:45406272..45416087hg38UCSC Ensembl
Outerchr11:45427822..45437637hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg389816
hg199816
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3228788
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14254437
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