A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5690635



Internal ID21716956
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:203738242..203738242hg38UCSC Ensembl
chr2:204602965..204602965hg19UCSC Ensembl
Cytoband2q33.2
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17214718
Samples
Known GenesCD28
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)nsv5690635
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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