A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3524512



Internal ID22393946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:109149979..109149979hg38UCSC Ensembl
chr9:111912259..111912259hg19UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg38308
hg19308
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14455925
SamplesHG00733
Known GenesFRRS1L
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)nsv3524512
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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