A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5725489



Internal ID21751810
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:40358572..40358572hg38UCSC Ensembl
chr4:40360589..40360589hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg38285
hg19285
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17249682, nssv17248050
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)nsv5725489
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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