A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5993265



Internal ID21902608
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:197518694..197518761hg38UCSC Ensembl
chr3:197245565..197245632hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17544648
Samples
Known GenesBDH1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5993265
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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