A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17011112



Internal ID75053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:28691584..28691635hg38UCSC Ensembl
chr8:28549101..28549152hg19UCSC Ensembl
Cytoband8p21.1
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5403092
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17011112
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.259474


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