A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5700456



Internal ID21726777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:116704768..116704768hg38UCSC Ensembl
chr8:117717007..117717007hg19UCSC Ensembl
Cytoband8q24.11
Allele length
AssemblyAllele length
hg38242
hg19242
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17185892
Samples
Known GenesEIF3H
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)nsv5700456
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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