A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5711251



Internal ID21737572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:35566108..35566108hg38UCSC Ensembl
chr22:35962155..35962155hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg38249
hg19249
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17204164, nssv17219518
Samples
Known Genes
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)nsv5711251
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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