A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3520269



Internal ID22389677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:21166095..21166095hg38UCSC Ensembl
chr1:21492588..21492588hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg38317
hg19317
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14381635
SamplesNA19240
Known GenesEIF4G3
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)nsv3520269
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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