A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3520367



Internal ID22389775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:112557186..112557186hg38UCSC Ensembl
chr3:112276033..112276033hg19UCSC Ensembl
Cytoband3q13.2
Allele length
AssemblyAllele length
hg3886
hg1986
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14398226
SamplesNA19240
Known GenesATG3
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)nsv3520367
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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