A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17730495



Internal ID154161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:4245719..4248384hg38UCSC Ensembl
chr20:4226366..4229031hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg382666
hg192666
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5515027
Supporting Variants
Samples
Known GenesADRA1D
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17730495
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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