A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17017407



Internal ID79251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:117146210..117146261hg38UCSC Ensembl
chr8:118158449..118158500hg19UCSC 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 Variantsnsv5398756
Supporting Variants
Samples
Known GenesSLC30A8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17017407
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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