A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5890243



Internal ID22665269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:169594679..169596557hg38UCSC Ensembl
chr5:169021683..169023561hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg381879
hg191879
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17428069
Samples
Known GenesSPDL1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5890243
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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