A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5516118



Internal ID292583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:27825785..27825859hg38UCSC Ensembl
chr18:25405749..25405823hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17716862
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5516118
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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