A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3523885



Internal ID22393313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:122406923..122406923hg38UCSC Ensembl
chr11:122277631..122277631hg19UCSC Ensembl
Cytoband11q24.1
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 Variantsnssv14443458
SamplesHG00733
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)nsv3523885
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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