A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5721352



Internal ID21747673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:124274261..124274261hg38UCSC Ensembl
chr11:124144157..124144157hg19UCSC Ensembl
Cytoband11q24.2
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 Variantsnssv17238541, nssv17241843
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)nsv5721352
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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