A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5724056



Internal ID21750377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:38996831..38996831hg38UCSC Ensembl
chr21:40368757..40368757hg19UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg385553
hg195553
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17245992
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)nsv5724056
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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