A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3524010



Internal ID22393439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:51729913..51729913hg38UCSC Ensembl
chr3:51763929..51763929hg19UCSC Ensembl
Cytoband3p21.2
Allele length
AssemblyAllele length
hg38327
hg19327
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14396279, nssv14451554, nssv14423474
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)nsv3524010
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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