A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3246622



Internal ID22376469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:27845739..27865142hg38UCSC Ensembl
Outerchr18:25425703..25445106hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg381297
hg191297
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3797n152
Supporting Variantsnssv14261866, nssv14261867, nssv14261868
SamplesNA19238, HG00732, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3246622
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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