A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5679308



Internal ID21705629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:111494624..111494624hg38UCSC Ensembl
chr6:111815827..111815827hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17225003
Samples
Known GenesTRAF3IP2-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)nsv5679308
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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