A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5692137



Internal ID21718458
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:56660999..56660999hg38UCSC Ensembl
chr6:56525797..56525797hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17180549, nssv17231313
Samples
Known GenesDST, RNU6-71P
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)nsv5692137
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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