A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17248884



Internal ID21696393
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 StatusS
Merged Variantsnsv5728469
Supporting Variants
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)nssv17248884
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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