A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16933748



Internal ID23233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:48615487..48622745hg38UCSC Ensembl
chr3:48652920..48660178hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg387259
hg197259
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5434494
Supporting Variants
Samples
Known GenesTMEM89
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16933748
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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