A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3521404



Internal ID22390818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:79624943..79624943hg38UCSC Ensembl
chr13:80199078..80199078hg19UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg38332
hg19332
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14417011, nssv14374800, nssv14443132
SamplesNA19240, HG00733, 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)nsv3521404
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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