A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3242372



Internal ID22375257
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:108702969..108732647hg38UCSC Ensembl
Outerchr11:108573696..108603374hg19UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg382729
hg192729
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14255720, nssv14255722, nssv14255719, nssv14255721
SamplesHG00512, HG00732, HG00733, HG00514
Known GenesDDX10
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3242372
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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