A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5478683



Internal ID256231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:115077204..115077459hg38UCSC Ensembl
chr8:116089433..116089688hg19UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg38256
hg19256
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17017328
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5478683
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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