A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3521133



Internal ID22390546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:28837951..28837951hg38UCSC Ensembl
chr13:29412088..29412088hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg38333
hg19333
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14382162
SamplesNA19240
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)nsv3521133
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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