A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5497896



Internal ID274910
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 StatusM
Merged Variants
Supporting Variantsnssv17700478
Samples
Known GenesPPP1R13B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5497896
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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