A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3520415



Internal ID22389823
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:172466729..172466729hg38UCSC Ensembl
chr5:171893733..171893733hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg38332
hg19332
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14457352, nssv14426312
SamplesHG00733, 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)nsv3520415
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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