A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5476558



Internal ID254164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:77980500..77980570hg38UCSC Ensembl
chr10:79740258..79740328hg19UCSC Ensembl
Cytoband10q22.3
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17035335
Samples
Known GenesPOLR3A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5476558
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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