A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5710383



Internal ID21736704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:41663889..41663889hg38UCSC Ensembl
chr22:42059893..42059893hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg38178
hg19178
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17203776
Samples
Known GenesXRCC6
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)nsv5710383
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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