A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17719476



Internal ID143142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:74264889..74268435hg38UCSC Ensembl
chr18:71932124..71935670hg19UCSC Ensembl
Cytoband18q22.3
Allele length
AssemblyAllele length
hg383547
hg193547
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5517489
Supporting Variants
Samples
Known GenesCYB5A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17719476
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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