A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5718044



Internal ID21744365
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 StatusM
Merged Variants
Supporting Variantsnssv17242166
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)nsv5718044
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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