A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3243834



Internal ID22375688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:26913621..26933651hg38UCSC Ensembl
Outerchr13:27487758..27507788hg19UCSC Ensembl
Cytoband13q12.13
Allele length
AssemblyAllele length
hg381089
hg191089
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14256631, nssv14256632, nssv14256630
SamplesHG00512, NA19238, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3243834
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