A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3226599



Internal ID22369345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:167195197..167208540hg38UCSC Ensembl
Outerchr1:167164434..167177777hg19UCSC Ensembl
Cytoband1q24.1
Allele length
AssemblyAllele length
hg382160
hg192160
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv456n152
Supporting Variantsnssv14264434
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3226599
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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