A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14260912



Internal ID22272792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:89570254..89635343hg38UCSC Ensembl
Outerchr16:89636662..89701751hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg382758
hg192758
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3246090
Supporting Variants
SamplesNA19239
Known GenesCPNE7, DPEP1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14260912
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