A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5724210



Internal ID21750531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:166866442..166866442hg38UCSC Ensembl
chr1:166835679..166835679hg19UCSC Ensembl
Cytoband1q24.1
Allele length
AssemblyAllele length
hg38584
hg19584
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17234586
Samples
Known GenesTADA1
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)nsv5724210
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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