A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5992343



Internal ID21901686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:16408567..16408866hg38UCSC Ensembl
chr3:16450074..16450373hg19UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg38300
hg19300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17543320
Samples
Known GenesRFTN1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5992343
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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