A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3520954



Internal ID22390366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:110473739..110473739hg38UCSC Ensembl
chr6:110794942..110794942hg19UCSC Ensembl
Cytoband6q21
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 Variantsnssv14426482
SamplesHG00514
Known GenesSLC22A16
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)nsv3520954
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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