A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5683294



Internal ID21709615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:132858893..132858893hg38UCSC Ensembl
chr3:132577737..132577737hg19UCSC Ensembl
Cytoband3q22.1
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 Variantsnssv17208388, nssv17215364
Samples
Known GenesNPHP3-AS1
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)nsv5683294
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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