A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5724453



Internal ID21750774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:84364242..84364242hg38UCSC Ensembl
chr6:85073960..85073960hg19UCSC Ensembl
Cytoband6q14.3
Allele length
AssemblyAllele length
hg38808
hg19808
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17238184
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)nsv5724453
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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