A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3520375



Internal ID22389783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:217210244..217210244hg38UCSC Ensembl
chr2:218074967..218074967hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38306
hg19306
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14394605, nssv14421352
SamplesNA19240, 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)nsv3520375
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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