A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14256919



Internal ID22118132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:40276308..40280973hg38UCSC Ensembl
Outerchr13:40850445..40855110hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg384666
hg194666
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3218489
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14256919
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