A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5685203



Internal ID21711524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:161019993..161019993hg38UCSC Ensembl
chr1:160989783..160989783hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38259
hg19259
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17181469
Samples
Known GenesF11R
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)nsv5685203
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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