A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5694182



Internal ID21720503
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:157130782..157130782hg38UCSC Ensembl
chr1:157100574..157100574hg19UCSC Ensembl
Cytoband1q23.1
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 Variantsnssv17179809, nssv17204735
Samples
Known GenesETV3
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)nsv5694182
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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