A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5680545



Internal ID21706866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:184376069..184376069hg38UCSC Ensembl
chr4:185297223..185297223hg19UCSC Ensembl
Cytoband4q35.1
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 Variantsnssv17210850, nssv17175905
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)nsv5680545
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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