A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17697883



Internal ID121549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:70326658..70326769hg38UCSC Ensembl
chr14:70793375..70793486hg19UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg38112
hg19112
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5501780
Supporting Variants
Samples
Known GenesCOX16, SYNJ2BP-COX16
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17697883
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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