A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3250310



Internal ID22377499
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:80478329..80497771hg38UCSC Ensembl
Outerchr14:80944672..80964114hg19UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg381923
hg191923
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2682n152
Supporting Variantsnssv14257815, nssv14257814, nssv14257810, nssv14257811, nssv14257813, nssv14257812
SamplesHG00512, NA19238, NA19239, HG00732, HG00513, HG00514
Known GenesCEP128
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3250310
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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