A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14281288



Internal ID22133319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:109346337..109365424hg38UCSC Ensembl
Outerchr9:112108617..112127704hg19UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg3819088
hg1919088
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3212253
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14281288
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