A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16966552



Internal ID45025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:59433957..59434259hg38UCSC Ensembl
chr5:58729783..58730085hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38303
hg19303
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5467332
Supporting Variants
Samples
Known GenesPDE4D
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16966552
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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