A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3558031



Internal ID22426834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:106209873..106209873hg38UCSC Ensembl
chr12:106603651..106603651hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38286
hg19286
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14416145, nssv14383365, nssv14443656
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)nsv3558031
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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