A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3235489



Internal ID22373305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:25252943..25296847hg38UCSC Ensembl
Outerchr14:25722149..25766053hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg381728
hg191728
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2560n152
Supporting Variantsnssv14258112, nssv14258110, nssv14258108, nssv14258111, nssv14258113, nssv14258109, nssv14258107, nssv14258114
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3235489
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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