A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3523582



Internal ID22393010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:183815291..183815291hg38UCSC Ensembl
chr4:184736444..184736444hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg38192
hg19192
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14424519
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a Alu.Mosaic mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3523582
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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