A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3547373



Internal ID22416345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:186654334..186654334hg38UCSC Ensembl
chr3:186372123..186372123hg19UCSC Ensembl
Cytoband3q27.3
Allele length
AssemblyAllele length
hg386050
hg196050
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14397800, nssv14425186
SamplesNA19240, 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)nsv3547373
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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