A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5713230



Internal ID21739551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:25226140..25226140hg38UCSC Ensembl
chr22:25622107..25622107hg19UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17230569, nssv17201140
Samples
Known GenesCRYBB2
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)nsv5713230
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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