A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3520613



Internal ID22390021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:161095805..161095805hg38UCSC Ensembl
chr2:161952316..161952316hg19UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg38300
hg19300
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14394861, nssv14450162, nssv14420340
SamplesNA19240, HG00733, HG00514
Known Genes
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)nsv3520613
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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