A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3522236



Internal ID22391656
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:18196940..18196940hg38UCSC Ensembl
chrUn_gl000212:25692..25692hg19UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg38199
hg19199
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14443667
SamplesHG00733
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)nsv3522236
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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