A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14452141



Internal ID22247089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:193050709..193050709hg38UCSC Ensembl
chr3:192768498..192768498hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38302
hg19302
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3520497
Supporting Variants
SamplesHG00733
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)nssv14452141
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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