A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5696823



Internal ID21723144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:10557863..10557863hg38UCSC Ensembl
chr18:10557860..10557860hg19UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17225671
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)nsv5696823
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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