A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5478223



Internal ID255786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:116770367..116771453hg38UCSC Ensembl
chr8:117782606..117783692hg19UCSC Ensembl
Cytoband8q24.11
Allele length
AssemblyAllele length
hg381087
hg191087
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17017382
Samples
Known GenesUTP23
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5478223
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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