A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17699338



Internal ID123004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:75152859..75196873hg38UCSC Ensembl
chr14:75619562..75663576hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3844015
hg1944015
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5505203
Supporting Variants
Samples
Known GenesTMED10
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17699338
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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