A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5710184



Internal ID21736505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:15306680..15306680hg38UCSC Ensembl
chr17:15209997..15209997hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg38254
hg19254
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17199245
Samples
Known GenesTEKT3
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)nsv5710184
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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