A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14281371



Internal ID22310328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:69699747..69715243hg38UCSC Ensembl
Outerchr9:72314663..72330159hg19UCSC Ensembl
Cytoband9q21.12
Allele length
AssemblyAllele length
hg385943
hg195943
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3246846
Supporting Variants
SamplesNA19240
Known GenesPTAR1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14281371
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