A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5694321



Internal ID21720642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:162250659..162250659hg38UCSC Ensembl
chr5:161677665..161677665hg19UCSC Ensembl
Cytoband5q34
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 Variantsnssv17177585
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)nsv5694321
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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