A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5594356



Internal ID21542954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:46168108..46171050hg38UCSC Ensembl
chr22:46564007..46566949hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg382943
hg192943
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17124400
SamplesNA12329
Known GenesPPARA
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5594356
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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