A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17189126



Internal ID21636635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:89450402..89450402hg38UCSC Ensembl
chr10:91210159..91210159hg19UCSC Ensembl
Cytoband10q23.31
Allele length
AssemblyAllele length
hg38257
hg19257
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5703792
Supporting Variants
Samples
Known GenesSLC16A12
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)nssv17189126
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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