A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5999389



Internal ID21908732
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:31832160..31833533hg38UCSC Ensembl
chr5:31832267..31833640hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg381374
hg191374
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17551019
Samples
Known GenesPDZD2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5999389
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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