A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17700478



Internal ID124144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:103813524..103841417hg38UCSC Ensembl
chr14:104279861..104307754hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg3827894
hg1927894
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5497896
Supporting Variants
Samples
Known GenesPPP1R13B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17700478
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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