A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16891890



Internal ID168788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:169466408..169466725hg38UCSC Ensembl
chr1:169435646..169435963hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg38318
hg19318
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5424976
Supporting Variants
Samples
Known GenesSLC19A2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16891890
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000781


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