A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14259832



Internal ID22119056
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:23447681..23460216hg38UCSC Ensembl
Outerchr16:23459002..23471537hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg38856
hg19856
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3242768
Supporting Variants
SamplesHG00512
Known GenesCOG7
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14259832
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