A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5707389



Internal ID21733710
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:14341476..14341476hg38UCSC Ensembl
chr11:14363022..14363022hg19UCSC Ensembl
Cytoband11p15.2
Allele length
AssemblyAllele length
hg3884
hg1984
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17190370
Samples
Known GenesRRAS2
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5707389
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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