A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17718754



Internal ID142420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:62499068..62499239hg38UCSC Ensembl
chr18:60166301..60166472hg19UCSC Ensembl
Cytoband18q21.33
Allele length
AssemblyAllele length
hg38172
hg19172
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5520594
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17718754
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000781


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