A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17220086



Internal ID21667595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:132788941..132788941hg38UCSC Ensembl
chr6:133110080..133110080hg19UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5690748
Supporting Variants
Samples
Known GenesSLC18B1
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)nssv17220086
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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