A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5526589



Internal ID302716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:45500922..45504896hg38UCSC Ensembl
chr18:43080887..43084861hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg383975
hg193975
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17717846
Samples
Known GenesSLC14A2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5526589
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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