A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5449170



Internal ID227415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:63294747..63295081hg38UCSC Ensembl
chr3:63280423..63280757hg19UCSC Ensembl
Cytoband3p14.2
Allele length
AssemblyAllele length
hg38335
hg19335
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16933136
Samples
Known GenesSYNPR
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5449170
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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