A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5448017



Internal ID226303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:141991000..141991672hg38UCSC Ensembl
chr3:141709842..141710514hg19UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg38673
hg19673
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16940675
Samples
Known GenesTFDP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5448017
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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