A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5722715



Internal ID21749036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:174764271..174764271hg38UCSC Ensembl
chr4:175685422..175685422hg19UCSC Ensembl
Cytoband4q34.1
Allele length
AssemblyAllele length
hg38368
hg19368
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17241780, nssv17252991
Samples
Known GenesGLRA3
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)nsv5722715
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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