A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5702615



Internal ID21728936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:33907222..33907222hg38UCSC Ensembl
chr21:35279526..35279526hg19UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg38201
hg19201
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17204353, nssv17214513
Samples
Known GenesATP5O
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)nsv5702615
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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