A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3522590



Internal ID22392012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:39399389..39399389hg38UCSC Ensembl
chr15:39691590..39691590hg19UCSC Ensembl
Cytoband15q14
Allele length
AssemblyAllele length
hg38307
hg19307
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14445707, nssv14417609
SamplesHG00733, 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)nsv3522590
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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