A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17698788



Internal ID122454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:100264763..100311599hg38UCSC Ensembl
chr14:100731100..100777936hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg3846837
hg1946837
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5513866
Supporting Variants
Samples
Known GenesMIR345, MIR6764, SLC25A29, YY1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17698788
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