A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3520147



Internal ID22389555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:170682343..170682343hg38UCSC Ensembl
chr1:170651484..170651484hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg38102
hg19102
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14381002
SamplesNA19240
Known GenesPRRX1
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)nsv3520147
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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