A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5705282



Internal ID21731603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:43522721..43522721hg38UCSC Ensembl
chr22:43918601..43918601hg19UCSC Ensembl
Cytoband22q13.2
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 Variantsnssv17203798
Samples
Known GenesEFCAB6-AS1
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)nsv5705282
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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