A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3520146



Internal ID22389554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:120706613..120706613hg38UCSC Ensembl
chr3:120425460..120425460hg19UCSC Ensembl
Cytoband3q13.33
Allele length
AssemblyAllele length
hg38291
hg19291
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14398239, nssv14451171
SamplesNA19240, HG00733
Known GenesRABL3
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)nsv3520146
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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