A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5688637



Internal ID21714958
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:4593533..4593533hg38UCSC Ensembl
chr1:4653593..4653593hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg38113
hg19113
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17193947
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)nsv5688637
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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