A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5519728



Internal ID296074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:22641141..22656572hg38UCSC Ensembl
chr18:20221104..20236535hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg3815432
hg1915432
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17716618
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5519728
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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