A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5606545



Internal ID21554850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:70269334..70269334hg38UCSC Ensembl
chr2:70496466..70496466hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg38327
hg19327
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17114975
SamplesNA19983
Known GenesPCYOX1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5606545
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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