A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3558424



Internal ID22427227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:32463888..32463888hg38UCSC Ensembl
chr9:32463886..32463886hg19UCSC Ensembl
Cytoband9p21.1
Allele length
AssemblyAllele length
hg38173
hg19173
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14457626, nssv14429843, nssv14403715
SamplesNA19240, HG00733, HG00514
Known GenesDDX58
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)nsv3558424
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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