A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5680798



Internal ID21707119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:233513878..233513878hg38UCSC Ensembl
chr1:233649624..233649624hg19UCSC Ensembl
Cytoband1q42.2
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 Variantsnssv17207030, nssv17192835
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)nsv5680798
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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