A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5458781



Internal ID236802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:127894328..127895523hg38UCSC Ensembl
chr4:128815483..128816678hg19UCSC Ensembl
Cytoband4q28.2
Allele length
AssemblyAllele length
hg381196
hg191196
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17735160
Samples
Known GenesPLK4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5458781
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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