A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3558453



Internal ID22427256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:54236359..54236359hg38UCSC Ensembl
chr18:51762729..51762729hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg38168
hg19168
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14419791, nssv14447424
SamplesHG00733, HG00514
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)nsv3558453
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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