A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5424976



Internal ID203950
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 StatusM
Merged Variants
Supporting Variantsnssv16891890
Samples
Known GenesSLC19A2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5424976
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer