A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5999439



Internal ID21908782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:32003145..32003198hg38UCSC Ensembl
chr5:32003251..32003304hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17548274
Samples
Known GenesPDZD2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5999439
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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