A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5676396



Internal ID21702717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:28913819..28913819hg38UCSC Ensembl
chr6:28881596..28881596hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg38258
hg19258
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17179255
Samples
Known GenesTRIM27
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)nsv5676396
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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