A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5730089



Internal ID21756410
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:190108768..190108768hg38UCSC Ensembl
chr4:191029923..191029923hg19UCSC Ensembl
Cytoband4q35.2
Allele length
AssemblyAllele length
hg385477
hg195477
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17241373
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)nsv5730089
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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