A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5702197



Internal ID21728518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:62118781..62118781hg38UCSC Ensembl
chr10:63878540..63878540hg19UCSC Ensembl
Cytoband10q21.2
Allele length
AssemblyAllele length
hg3894
hg1994
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17189081
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)nsv5702197
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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