A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5450159



Internal ID228376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:212302951..212303020hg38UCSC Ensembl
chr1:212476293..212476362hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg3870
hg1970
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16896094
Samples
Known GenesPPP2R5A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5450159
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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