A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5459136



Internal ID237154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:60414913..60477374hg38UCSC Ensembl
chr5:59710740..59773201hg19UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg3862462
hg1962462
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16965751
Samples
Known GenesPDE4D
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5459136
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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