A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17718199



Internal ID141865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:52109860..52235584hg38UCSC Ensembl
chr18:49636230..49761954hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg38125725
hg19125725
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5516007
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17718199
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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