A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5690669



Internal ID21716990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:88296473..88296473hg38UCSC Ensembl
chr5:87592290..87592290hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17177826
Samples
Known GenesTMEM161B-AS1
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)nsv5690669
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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