A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5472347



Internal ID250060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:40786663..40787371hg38UCSC Ensembl
chr5:40786765..40787473hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg38709
hg19709
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16964496
Samples
Known GenesPRKAA1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5472347
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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