A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17718633



Internal ID142299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:60379960..60380025hg38UCSC Ensembl
chr18:58047193..58047258hg19UCSC Ensembl
Cytoband18q21.32
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5521279
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17718633
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.001873


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