A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3522450



Internal ID22391872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:155248417..155248417hg38UCSC Ensembl
chr3:154966206..154966206hg19UCSC Ensembl
Cytoband3q25.2
Allele length
AssemblyAllele length
hg38312
hg19312
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14423563
SamplesHG00514
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)nsv3522450
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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