A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5690134



Internal ID21716455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:167514341..167514341hg38UCSC Ensembl
chr3:167232129..167232129hg19UCSC Ensembl
Cytoband3q26.1
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 Variantsnssv17217727, nssv17208481
Samples
Known GenesWDR49
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)nsv5690134
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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