A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5725491



Internal ID21751812
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:159066526..159066526hg38UCSC Ensembl
chr1:159036316..159036316hg19UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg386019
hg196019
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17235606
Samples
Known GenesAIM2
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)nsv5725491
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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