A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17727488



Internal ID151154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:17514823..17521354hg38UCSC Ensembl
chr22:17993852..18000383hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg386532
hg196532
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5550848
Supporting Variants
Samples
Known GenesCECR2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17727488
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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