A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5689510



Internal ID21715831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:33317415..33317415hg38UCSC Ensembl
chr1:33783016..33783016hg19UCSC Ensembl
Cytoband1p35.1
Allele length
AssemblyAllele length
hg38265
hg19265
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17205761, nssv17197228
Samples
Known GenesA3GALT2
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)nsv5689510
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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