A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6040660



Internal ID21949999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:50344806..50344933hg38UCSC Ensembl
chr22:50783235..50783362hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg38128
hg19128
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17646375
Samples
Known GenesPPP6R2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6040660
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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