A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3220946



Internal ID22365490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:151953243..151974263hg38UCSC Ensembl
Outerchr3:151671031..151692052hg19UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg386211
hg196211
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14271599, nssv14271600
SamplesNA19238, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3220946
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