A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5519019



Internal ID295378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:27816535..27817517hg38UCSC Ensembl
chr18:25396499..25397481hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg38983
hg19983
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17716861
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5519019
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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