A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3524482



Internal ID22393915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:35689269..35689269hg38UCSC Ensembl
chr19:36180171..36180171hg19UCSC Ensembl
Cytoband19q13.12
Allele length
AssemblyAllele length
hg38320
hg19320
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14420486, nssv14448238, nssv14393519
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)nsv3524482
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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