A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5685490



Internal ID21711811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:98435578..98435578hg38UCSC Ensembl
chr2:99052041..99052041hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg38245
hg19245
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17207611, nssv17210369
Samples
Known Genes
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)nsv5685490
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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