A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5543972



Internal ID318174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:50359442..50370513hg38UCSC Ensembl
chr22:50797871..50808942hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg3811072
hg1911072
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17729939
Samples
Known GenesPPP6R2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5543972
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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