A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17209983



Internal ID21657492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:112104904..112104904hg38UCSC Ensembl
chr3:111823751..111823751hg19UCSC Ensembl
Cytoband3q13.2
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5681619
Supporting Variants
Samples
Known GenesC3orf52
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)nssv17209983
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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