A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3522690



Internal ID22392112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:45992458..45992458hg38UCSC Ensembl
chr18:43572424..43572424hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg38183
hg19183
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14392609
SamplesNA19240
Known GenesPSTPIP2
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)nsv3522690
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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