A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5728474



Internal ID21754795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:81558602..81558602hg38UCSC Ensembl
chr6:82268319..82268319hg19UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg38526
hg19526
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17243161
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)nsv5728474
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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