A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5729275



Internal ID21755596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:32456682..32456682hg38UCSC Ensembl
chr11:32478228..32478228hg19UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg38196
hg19196
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17242714
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)nsv5729275
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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