A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3239850



Internal ID22374550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:69108248..69126750hg38UCSC Ensembl
Outerchr11:68875716..68894218hg19UCSC Ensembl
Cytoband11q13.3
Allele length
AssemblyAllele length
hg381215
hg191215
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14255095, nssv14255092, nssv14255099, nssv14255094, nssv14255096, nssv14255093, nssv14255100, nssv14255097, nssv14255098
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)nsv3239850
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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