A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5482117



Internal ID259578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:47871747..47871889hg38UCSC Ensembl
chr8:48784308..48784450hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg38143
hg19143
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17010821
Samples
Known GenesPRKDC
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5482117
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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