A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5984800



Internal ID21894143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:67202429..67204278hg38UCSC Ensembl
chr1:67668112..67669961hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg381850
hg191850
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17529241
Samples
Known GenesIL23R
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5984800
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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