A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17226283



Internal ID21673792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:193648338..193648338hg38UCSC Ensembl
chr3:193366127..193366127hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5680976
Supporting Variants
Samples
Known GenesOPA1
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)nssv17226283
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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