A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5689977



Internal ID21716298
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:177364906..177364906hg38UCSC Ensembl
chr1:177334042..177334042hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg38241
hg19241
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17183888
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)nsv5689977
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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