A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3520347



Internal ID22389755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:58822745..58822745hg38UCSC Ensembl
chr13:59396879..59396879hg19UCSC Ensembl
Cytoband13q21.1
Allele length
AssemblyAllele length
hg38316
hg19316
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14379486, nssv14444394, nssv14416927
SamplesNA19240, HG00733, HG00514
Known Genes
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)nsv3520347
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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