A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5676563



Internal ID21702884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:135501930..135501930hg38UCSC Ensembl
chr5:134837620..134837620hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg38268
hg19268
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17177464
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)nsv5676563
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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