A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5492848



Internal ID270047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:20127070..20168882hg38UCSC Ensembl
chr8:19984581..20026393hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg3841813
hg1941813
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17009133
Samples
Known GenesSLC18A1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5492848
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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