A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3522965



Internal ID22392389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:92829521..92829521hg38UCSC Ensembl
chr15:93372751..93372751hg19UCSC Ensembl
Cytoband15q26.1
Allele length
AssemblyAllele length
hg38330
hg19330
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14445793, nssv14417707
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)nsv3522965
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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