A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3241706



Internal ID22375045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:130636015..130650386hg38UCSC Ensembl
Outerchr12:131120560..131134931hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg383373
hg193373
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14256240, nssv14256241, nssv14256239, nssv14256238
SamplesNA19238, HG00731, NA19240, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3241706
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