A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5729665



Internal ID21755986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:109359280..109359280hg38UCSC Ensembl
chr10:111119038..111119038hg19UCSC Ensembl
Cytoband10q25.1
Allele length
AssemblyAllele length
hg381152
hg191152
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17242017, nssv17247114
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)nsv5729665
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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