A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3524278



Internal ID22393709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:32587399..32587399hg38UCSC Ensembl
chr6:32555176..32555176hg19UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg38691
hg19691
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14426407, nssv14456810
SamplesHG00733, HG00514
Known GenesHLA-DRB1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a AluS mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3524278
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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