A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14259247



Internal ID22132752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:55740038..55789709hg38UCSC Ensembl
Outerchr16:55773950..55823621hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3849672
hg1949672
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3228327
Supporting Variants
SamplesHG00513
Known GenesCES1P1, CES1P2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14259247
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