A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5691391



Internal ID21717712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:168319043..168319043hg38UCSC Ensembl
chr5:167746048..167746048hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg38278
hg19278
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17179368
Samples
Known GenesWWC1
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)nsv5691391
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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