A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3522192



Internal ID22391611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:127344406..127344406hg38UCSC Ensembl
chr8:128356652..128356652hg19UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg38171
hg19171
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14429670
SamplesHG00514
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)nsv3522192
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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