A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16965711



Internal ID44460
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 StatusS
Merged Variantsnsv5406474
Supporting Variants
Samples
Known GenesPDE4D
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16965711
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.005151


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