A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16890643



Internal ID167943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:153970131..153970947hg38UCSC Ensembl
chr1:153942607..153943423hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38817
hg19817
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5421883
Supporting Variants
Samples
Known GenesCREB3L4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16890643
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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