A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3521172



Internal ID22390585
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:62046478..62046478hg38UCSC Ensembl
chr18:59713711..59713711hg19UCSC Ensembl
Cytoband18q21.33
Allele length
AssemblyAllele length
hg38249
hg19249
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14393347
SamplesNA19240
Known GenesPIGN
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)nsv3521172
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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