A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5523863



Internal ID300081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:52209602..52231724hg38UCSC Ensembl
chr18:49735972..49758094hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg3822123
hg1922123
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17718202
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5523863
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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