A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5729515



Internal ID21755836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:220655349..220655349hg38UCSC Ensembl
chr1:220828691..220828691hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38328
hg19328
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17237361
Samples
Known GenesMARK1
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)nsv5729515
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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