A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5724340



Internal ID21750661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:174382771..174382771hg38UCSC Ensembl
chr4:175303922..175303922hg19UCSC Ensembl
Cytoband4q34.1
Allele length
AssemblyAllele length
hg381087
hg191087
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17240998, nssv17251022
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)nsv5724340
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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