A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17228145



Internal ID21675654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:128285884..128285884hg38UCSC Ensembl
chr3:128004727..128004727hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg38260
hg19260
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5688690
Supporting Variants
Samples
Known GenesEEFSEC
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)nssv17228145
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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