A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5698123



Internal ID21724444
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:49839533..49839533hg38UCSC Ensembl
chr17:47916895..47916895hg19UCSC Ensembl
Cytoband17q21.33
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 Variantsnssv17216870, nssv17199955
Samples
Known GenesTAC4
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)nsv5698123
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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