A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5534223



Internal ID214294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:147046697..147046697hg38UCSC Ensembl
chr5:146426260..146426260hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg38283
hg19283
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16976264
Samples
Known GenesPPP2R2B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5534223
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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