A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5714758



Internal ID21741079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:3260546..3260546hg38UCSC Ensembl
chr4:3262273..3262273hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38519
hg19519
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17238971
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)nsv5714758
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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