A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3520593



Internal ID22390001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:126677675..126677675hg38UCSC Ensembl
chr3:126396518..126396518hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg38111
hg19111
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14451575
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)nsv3520593
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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