A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17007475



Internal ID72622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:13307582..13316398hg38UCSC Ensembl
chr8:13165091..13173907hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg388817
hg198817
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5486967
Supporting Variants
Samples
Known GenesDLC1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17007475
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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