A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5514109



Internal ID290611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:350000..744000hg38UCSC Ensembl
chr18:350000..744000hg19UCSC Ensembl
Cytoband18p11.32
Allele length
AssemblyAllele length
hg38394001
hg19394001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17715773
Samples
Known GenesC18orf56, CETN1, CLUL1, COLEC12, ENOSF1, TYMS, YES1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5514109
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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