A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5702018



Internal ID21728339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:39760495..39760495hg38UCSC Ensembl
chr22:40156500..40156500hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17204211
Samples
Known GenesENTHD1
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)nsv5702018
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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