A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5693274



Internal ID21719595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:49043646..49043646hg38UCSC Ensembl
chr4:49045663..49045663hg19UCSC Ensembl
Cytoband4p11
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17228080, nssv17211122
Samples
Known GenesCWH43
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)nsv5693274
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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