A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3521232



Internal ID22390645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:94491159..94491159hg38UCSC Ensembl
chr8:95503387..95503387hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg38166
hg19166
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14429247, nssv14402127
SamplesNA19240, HG00514
Known GenesKIAA1429
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)nsv3521232
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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