A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5724378



Internal ID21750699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:194234204..194234204hg38UCSC Ensembl
chr1:194203334..194203334hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg382490
hg192490
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17249581
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)nsv5724378
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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