A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3243341



Internal ID22375542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:43229876..43378861hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg3828930
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3570n152
Supporting Variantsnssv14261156, nssv14261157
SamplesNA19239, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3243341
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