A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17392051



Internal ID22449921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:50368680..50373571hg38UCSC Ensembl
chr22:50807109..50812000hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg384892
hg194892
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5958831
Supporting Variants
Samples
Known GenesPPP6R2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17392051
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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