A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3520852



Internal ID22390263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:37656829..37656829hg38UCSC Ensembl
chr22:38052836..38052836hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg38305
hg19305
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14395747
SamplesNA19240
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)nsv3520852
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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