A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5720738



Internal ID21747059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:78243417..78243417hg38UCSC Ensembl
chr1:78709101..78709101hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38731
hg19731
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17252112
Samples
Known GenesMGC27382
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)nsv5720738
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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