A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5517746



Internal ID294160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:45331298..45333750hg38UCSC Ensembl
chr18:42911263..42913715hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg382453
hg192453
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17717845
Samples
Known GenesSLC14A2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5517746
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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