A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3558073



Internal ID22426876
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:43323464..43323464hg38UCSC Ensembl
chr20:41952104..41952104hg19UCSC Ensembl
Cytoband20q13.11
Allele length
AssemblyAllele length
hg38540
hg19540
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14449473
SamplesHG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a L1HS mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3558073
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