A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5679187



Internal ID21705508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:14776418..14776418hg38UCSC Ensembl
chr3:14817925..14817925hg19UCSC Ensembl
Cytoband3p25.1
Allele length
AssemblyAllele length
hg38116
hg19116
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17218447
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)nsv5679187
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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