A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3227227



Internal ID22369789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:241567021..241597645hg38UCSC Ensembl
Outerchr2:242506436..242537060hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg385450
hg195450
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5128n152
Supporting Variantsnssv14266752, nssv14266750, nssv14266751
SamplesHG00512, NA19238, NA19239
Known GenesBOK, THAP4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3227227
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