A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3522050



Internal ID22391469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241487621..241487621hg38UCSC Ensembl
chr2:242427036..242427036hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14447766
SamplesHG00733
Known GenesFARP2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a AluS mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3522050
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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