A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3520522



Internal ID22389930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:185056646..185056646hg38UCSC Ensembl
chr4:185977800..185977800hg19UCSC Ensembl
Cytoband4q35.1
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 Variantsnssv14424525, nssv14451973, nssv14397365
SamplesNA19240, HG00733, HG00514
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)nsv3520522
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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