A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5450114



Internal ID228332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:40084264..40084676hg38UCSC Ensembl
chr3:40125755..40126167hg19UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg38413
hg19413
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16932284
Samples
Known GenesMYRIP
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5450114
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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