A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5450509



Internal ID228714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:142130910..142133645hg38UCSC Ensembl
chr3:141849752..141852487hg19UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg382736
hg192736
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16941000
Samples
Known GenesTFDP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5450509
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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