A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5512458



Internal ID289010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:14828076..14828190hg38UCSC Ensembl
chr11:14849622..14849736hg19UCSC Ensembl
Cytoband11p15.2
Allele length
AssemblyAllele length
hg38115
hg19115
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17041429
Samples
Known GenesPDE3B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5512458
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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