A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17137669



Internal ID21446586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:50397548..50397831hg38UCSC Ensembl
chr22:50835977..50836260hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg38284
hg19284
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5586229
Supporting Variants
SamplesHG00732
Known GenesPPP6R2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17137669
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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