A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5980653



Internal ID21889996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:108190700..108193180hg38UCSC Ensembl
chr1:108733322..108735802hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg382481
hg192481
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17520538
Samples
Known GenesSLC25A24
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5980653
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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