A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3222275



Internal ID22366398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:67905637..67925341hg38UCSC Ensembl
Outerchr2:68132769..68152473hg19UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg38923
hg19923
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14266175, nssv14266176, nssv14265305, nssv14265304
SamplesHG00512, NA19238, HG00732, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3222275
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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