A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5966479



Internal ID22741414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:50370344..50371695hg38UCSC Ensembl
chr22:50808773..50810124hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg381352
hg191352
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1412n209
Supporting Variantsnssv17391630
Samples
Known GenesPPP6R2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5966479
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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