A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5691890



Internal ID21718211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:160262229..160262229hg38UCSC Ensembl
chr2:161118740..161118740hg19UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17230048
Samples
Known GenesLOC100505984
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)nsv5691890
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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