A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5520555



Internal ID296880
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:559000..844000hg38UCSC Ensembl
chr18:559000..844001hg19UCSC Ensembl
Cytoband18p11.32
Allele length
AssemblyAllele length
hg38285001
hg19285002
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17715149
Samples
Known GenesC18orf56, CETN1, CLUL1, ENOSF1, TYMS, YES1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5520555
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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