A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3519782



Internal ID22389189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:38477227..38477227hg38UCSC Ensembl
chr15:38769428..38769428hg19UCSC Ensembl
Cytoband15q14
Allele length
AssemblyAllele length
hg38338
hg19338
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14445705
SamplesHG00733
Known GenesFAM98B
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)nsv3519782
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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