A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3520921



Internal ID22390333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:41373621..41373621hg38UCSC Ensembl
chr19:41879526..41879526hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38670
hg19670
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14393970, nssv14446333, nssv14421102
SamplesNA19240, HG00733, HG00514
Known GenesTMEM91
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)nsv3520921
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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