A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6049680



Internal ID21958913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:50397547..50397972hg38UCSC Ensembl
chr22:50835976..50836401hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg38426
hg19426
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17648481
Samples
Known GenesPPP6R2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6049680
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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