A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5698670



Internal ID21724991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:78788593..78788593hg38UCSC Ensembl
chr17:76784675..76784675hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17216522, nssv17200424
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)nsv5698670
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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