A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5728429



Internal ID21754750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:29462108..29462108hg38UCSC Ensembl
chr11:29483655..29483655hg19UCSC Ensembl
Cytoband11p14.1
Allele length
AssemblyAllele length
hg386017
hg196017
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17249146, nssv17236246
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)nsv5728429
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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