A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17211797



Internal ID21659306
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:25772333..25772333hg38UCSC Ensembl
chr4:25773955..25773955hg19UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg38247
hg19247
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5690950
Supporting Variants
Samples
Known GenesSEL1L3
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)nssv17211797
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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