A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5513803



Internal ID290317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:102410288..102411730hg38UCSC Ensembl
chr14:102876625..102878067hg19UCSC Ensembl
Cytoband14q32.31
Allele length
AssemblyAllele length
hg381443
hg191443
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17698353
Samples
Known GenesTECPR2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5513803
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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