A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5406474



Internal ID185814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:59804553..59804596hg38UCSC Ensembl
chr5:59100379..59100422hg19UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg38312
hg19312
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16965711
Samples
Known GenesPDE4D
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5406474
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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