A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5728469



Internal ID21754790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:43928725..43928725hg38UCSC Ensembl
chr22:44324605..44324605hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg381056
hg191056
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17248884, nssv17242343
Samples
Known GenesPNPLA3
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a L1 mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5728469
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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