A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5690764



Internal ID21717085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:54458097..54458097hg38UCSC Ensembl
chr2:54685234..54685234hg19UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17204137
Samples
Known GenesSPTBN1
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)nsv5690764
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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