A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5957305



Internal ID22732429
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 Variantsnssv17390900
Samples
Known GenesPPARA
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5957305
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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