A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5448085



Internal ID226370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:170202881..170335141hg38UCSC Ensembl
chr3:169920669..170052929hg19UCSC Ensembl
Cytoband3q26.2
Allele length
AssemblyAllele length
hg38132261
hg19132261
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16942482
Samples
Known GenesPRKCI
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5448085
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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