A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253599



Internal ID22254557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:93763661..93784474hg38UCSC Ensembl
Outerchr11:93496827..93517640hg19UCSC Ensembl
Cytoband11q21
Allele length
AssemblyAllele length
hg3820814
hg1920814
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3219319
Supporting Variants
SamplesNA19238
Known GenesMED17
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253599
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