A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5695241



Internal ID21721562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:28351334..28351334hg38UCSC Ensembl
chr22:28747322..28747322hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg38102
hg19102
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17202110
Samples
Known GenesTTC28
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)nsv5695241
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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