A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5726450



Internal ID21752771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:174173298..174173298hg38UCSC Ensembl
chr4:175094449..175094449hg19UCSC Ensembl
Cytoband4q34.1
Allele length
AssemblyAllele length
hg38102
hg19102
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17235426
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)nsv5726450
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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