A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3558420



Internal ID22427223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:34904796..34904796hg38UCSC Ensembl
chr9:34904793..34904793hg19UCSC Ensembl
Cytoband9p13.3
Allele length
AssemblyAllele length
hg38104
hg19104
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14404076, nssv14453226, nssv14427687
SamplesNA19240, HG00733, HG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a L1P mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3558420
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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