A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3520529



Internal ID22389937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:129585421..129585421hg38UCSC Ensembl
chr11:129455316..129455316hg19UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg38229
hg19229
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14443851, nssv14415623
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)nsv3520529
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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