A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5702877



Internal ID21729198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:15842242..15842242hg38UCSC Ensembl
chr21:17214561..17214561hg19UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg38267
hg19267
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17222861, nssv17203976
Samples
Known GenesUSP25
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)nsv5702877
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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