A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17729551



Internal ID153217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:46211840..46213533hg38UCSC Ensembl
chr22:46607737..46609430hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg381694
hg191694
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5549520
Supporting Variants
Samples
Known GenesPPARA
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17729551
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000468


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