A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5725114



Internal ID21751435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:127252961..127252961hg38UCSC Ensembl
chr8:128265206..128265206hg19UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg38121
hg19121
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17245699
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)nsv5725114
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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