A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5674945



Internal ID21701266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:31553451..31553451hg38UCSC Ensembl
chr1:32019052..32019052hg19UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg38261
hg19261
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17205748, nssv17194854
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)nsv5674945
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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