A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5684972



Internal ID21711293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:98525026..98525026hg38UCSC Ensembl
chr3:98243870..98243870hg19UCSC Ensembl
Cytoband3q11.2
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 Variantsnssv17210524, nssv17219121
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)nsv5684972
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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