A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17730120



Internal ID153786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:24121641..24129836hg38UCSC Ensembl
chr3:24163132..24171327hg19UCSC Ensembl
Cytoband3p24.2
Allele length
AssemblyAllele length
hg388196
hg198196
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5437263
Supporting Variants
Samples
Known GenesTHRB
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17730120
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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