A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5994942



Internal ID21904285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:123001925..123003950hg38UCSC Ensembl
chr4:123923080..123925105hg19UCSC Ensembl
Cytoband4q28.1
Allele length
AssemblyAllele length
hg382026
hg192026
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17537777
Samples
Known GenesSPATA5
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5994942
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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