A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17250927



Internal ID21698436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:232558619..232558619hg38UCSC Ensembl
chr2:233423329..233423329hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg383093
hg193093
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5715656
Supporting Variants
Samples
Known GenesEIF4E2
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)nssv17250927
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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