A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3524698



Internal ID22394133
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:105385610..105385610hg38UCSC Ensembl
chr12:105779388..105779388hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38313
hg19313
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14377273
SamplesNA19240
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)nsv3524698
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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