A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3520086



Internal ID22389495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:172308909..172308909hg38UCSC Ensembl
chr5:171735913..171735913hg19UCSC Ensembl
Cytoband5q35.1
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 Variantsnssv14465863, nssv14426311
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)nsv3520086
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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