A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3247753



Internal ID22376790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:63154252..63170015hg38UCSC Ensembl
Outerchr20:61785604..61801367hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg382757
hg192757
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14267052, nssv14268049, nssv14267053, nssv14268048
SamplesHG00512, HG00732, HG00733, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3247753
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