A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17185899



Internal ID21633408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:117146210..117146210hg38UCSC Ensembl
chr8:118158449..118158449hg19UCSC Ensembl
Cytoband8q24.11
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5704371
Supporting Variants
Samples
Known GenesSLC30A8
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)nssv17185899
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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