A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5725861



Internal ID21752182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:219931605..219931605hg38UCSC Ensembl
chr2:220796326..220796326hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg386013
hg196013
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17244901
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)nsv5725861
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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