A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3523079



Internal ID22392504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:62274763..62274763hg38UCSC Ensembl
chr2:62501898..62501898hg19UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg38298
hg19298
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14421040, nssv14394084
SamplesNA19240, 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)nsv3523079
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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