A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5730101



Internal ID21756422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:17968975..17968975hg38UCSC Ensembl
chr21:19341292..19341292hg19UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg381529
hg191529
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17240894
Samples
Known GenesCHODL
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)nsv5730101
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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