A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5724665



Internal ID21750986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:214136453..214136453hg38UCSC Ensembl
chr1:214309796..214309796hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg3898
hg1998
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17237265
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)nsv5724665
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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