A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5692243



Internal ID21718564
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:194005555..194005555hg38UCSC Ensembl
chr3:193723344..193723344hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38262
hg19262
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17222747, nssv17208574
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)nsv5692243
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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