A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3520226



Internal ID22389634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:58993880..58993880hg38UCSC Ensembl
chr8:59906439..59906439hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg38317
hg19317
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14429612, nssv14456997
SamplesHG00733, HG00514
Known GenesTOX
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a AluY mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3520226
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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