A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5683214



Internal ID21709535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:93960562..93960562hg38UCSC Ensembl
chr3:93679406..93679406hg19UCSC Ensembl
Cytoband3q11.1
Allele length
AssemblyAllele length
hg38270
hg19270
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17233084
Samples
Known GenesPROS1
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)nsv5683214
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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