A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5720733



Internal ID21747054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:159081782..159081782hg38UCSC Ensembl
chr1:159051572..159051572hg19UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg38348
hg19348
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17233731
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)nsv5720733
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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