A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5990919



Internal ID21900262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:100321118..100322086hg38UCSC Ensembl
chr3:100039962..100040930hg19UCSC Ensembl
Cytoband3q12.2
Allele length
AssemblyAllele length
hg38969
hg19969
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17539545
Samples
Known GenesTBC1D23
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5990919
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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