A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5948940



Internal ID22724402
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:50439659..50441965hg38UCSC Ensembl
chr22:50878088..50880394hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg382307
hg192307
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17397897
Samples
Known GenesPPP6R2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5948940
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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