A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17719232



Internal ID142898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:70402229..70405883hg38UCSC Ensembl
chr18:68069465..68073119hg19UCSC Ensembl
Cytoband18q22.2
Allele length
AssemblyAllele length
hg383655
hg193655
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5524005
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17719232
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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