A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5689006



Internal ID21715327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:50664925..50664925hg38UCSC Ensembl
chr3:50702356..50702356hg19UCSC Ensembl
Cytoband3p21.2
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 Variantsnssv17210385, nssv17226145
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)nsv5689006
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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