A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5513249



Internal ID289777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:64543844..64553510hg38UCSC Ensembl
chr14:65010562..65020228hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg389667
hg199667
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17696738
Samples
Known GenesPPP1R36
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5513249
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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