A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3558566



Internal ID22427368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:126074684..126074684hg38UCSC Ensembl
chr8:127086928..127086928hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg38113
hg19113
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14465207, nssv14402387, nssv14429666
SamplesNA19240, HG00733, HG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3558566
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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