A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5690471



Internal ID21716792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:52580494..52580494hg38UCSC Ensembl
chr5:51876328..51876328hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17176191
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)nsv5690471
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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