A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17426986



Internal ID22484856
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:169599157..169601276hg38UCSC Ensembl
chr5:169026161..169028280hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg382120
hg192120
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5897554
Supporting Variants
Samples
Known GenesSPDL1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17426986
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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