A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3521443



Internal ID22390858
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:84854229..84854229hg38UCSC Ensembl
chr15:85397460..85397460hg19UCSC Ensembl
Cytoband15q25.3
Allele length
AssemblyAllele length
hg38317
hg19317
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14390436, nssv14419270, nssv14445738
SamplesNA19240, HG00733, HG00514
Known GenesALPK3
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)nsv3521443
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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