A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3520689



Internal ID22390097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:42688564..42688564hg38UCSC Ensembl
chr13:43262700..43262700hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg3899
hg1999
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14444325, nssv14416858, nssv14383917
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)nsv3520689
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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