A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3558040



Internal ID22426843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:49760479..49760479hg38UCSC Ensembl
chr22:50154127..50154127hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg3882
hg1982
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14396946, nssv14449267
SamplesNA19240, HG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a L1 mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3558040
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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