A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17231716



Internal ID21679225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:238425712..238425712hg38UCSC Ensembl
chr2:239334353..239334353hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5678741
Supporting Variants
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)nssv17231716
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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