A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17230266



Internal ID21677775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:172751590..172751590hg38UCSC Ensembl
chr3:172469380..172469380hg19UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5675798
Supporting Variants
Samples
Known GenesECT2
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)nssv17230266
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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