A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3234543



Internal ID22373061
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:117598784..117612161hg38UCSC Ensembl
Outerchr8:118611023..118624400hg19UCSC Ensembl
Cytoband8q24.11
Allele length
AssemblyAllele length
hg384141
hg194141
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14281058, nssv14281057
SamplesHG00731, HG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3234543
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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