A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17011393



Internal ID75249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:54800565..54962362hg38UCSC Ensembl
chr8:55713125..55874922hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg38161798
hg19161798
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5485463
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17011393
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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