A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17242166



Internal ID21689675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:210915943..210915943hg38UCSC Ensembl
chr2:211780667..211780667hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg38668
hg19668
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5718044
Supporting Variants
Samples
Known Genes
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)nssv17242166
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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