A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14397152



Internal ID22318008
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:171908583..171908583hg38UCSC Ensembl
chr3:171626373..171626373hg19UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg38317
hg19317
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3522748
Supporting Variants
SamplesNA19240
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)nssv14397152
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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