A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5693240



Internal ID21719561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:123522075..123522075hg38UCSC Ensembl
chr5:122857769..122857769hg19UCSC Ensembl
Cytoband5q23.2
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 Variantsnssv17178219
Samples
Known GenesCSNK1G3
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)nsv5693240
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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