A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3521730



Internal ID22391146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:45340543..45340543hg38UCSC Ensembl
chr22:45736424..45736424hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38292
hg19292
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14450296
SamplesHG00733
Known GenesFAM118A
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)nsv3521730
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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