A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3214553



Internal ID22361175
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:86531383..86548657hg38UCSC Ensembl
Outerchr9:89146298..89163572hg19UCSC Ensembl
Cytoband9q21.33
Allele length
AssemblyAllele length
hg3817275
hg1917275
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9634n152
Supporting Variantsnssv14281229, nssv14281222, nssv14281223, nssv14281225, nssv14281227, nssv14281230, nssv14281226, nssv14281224, nssv14281228
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3214553
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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