A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3521336



Internal ID22390749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:183870210..183870210hg38UCSC Ensembl
chr3:183587998..183587998hg19UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg38303
hg19303
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14451992, nssv14397791, nssv14425169
SamplesNA19240, HG00733, HG00514
Known GenesPARL
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsInsertion of a AluS mobile element relative to the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3521336
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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