A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5492190



Internal ID269410
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:22728512..22728592hg38UCSC Ensembl
chr8:22586025..22586105hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg3881
hg1981
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17010278
Samples
Known GenesPEBP4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5492190
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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