A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3246492



Internal ID22376431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:89337610..89343719hg38UCSC Ensembl
Outerchr15:89880841..89886950hg19UCSC Ensembl
Cytoband15q26.1
Allele length
AssemblyAllele length
hg381183
hg191183
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14258869, nssv14258868, nssv14258873, nssv14258876, nssv14258872, nssv14258874, nssv14258875, nssv14258870, nssv14258871
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)nsv3246492
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