A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17641236



Internal ID21833283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:50397548..50397832hg38UCSC Ensembl
chr22:50835977..50836261hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg38285
hg19285
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6050246
Supporting Variants
Samples
Known GenesPPP6R2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17641236
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer