A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5721474



Internal ID21747795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:55618689..55618689hg38UCSC Ensembl
chr4:56484856..56484856hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg385962
hg195962
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17246428
Samples
Known GenesNMU
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)nsv5721474
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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