A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5719436



Internal ID21745757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:57059381..57059381hg38UCSC Ensembl
chr3:57093409..57093409hg19UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg383014
hg193014
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17247521
Samples
Known GenesARHGEF3
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)nsv5719436
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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