A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17647668



Internal ID21839715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:50344791..50344854hg38UCSC Ensembl
chr22:50783220..50783283hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6047206
Supporting Variants
Samples
Known GenesPPP6R2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17647668
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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