A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5736n223



Internal ID22808704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:41754201..41757668hg38UCSC Ensembl
chr5:41754303..41757770hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg383468
hg193468
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6376021, nsv6394062
Samples
Known GenesOXCT1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv5736n223
Frequency
Sample Size19652
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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