A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14259701



Internal ID22275160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:59620709..59635735hg38UCSC Ensembl
Outerchr16:59654613..59669639hg19UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg3815027
hg1915027
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3217450
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14259701
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