A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14260312



Internal ID22258340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:85813859..85850915hg38UCSC Ensembl
Outerchr16:85847465..85884521hg19UCSC Ensembl
Cytoband16q24.1
Allele length
AssemblyAllele length
hg381129
hg191129
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3231431
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14260312
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer