A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv198n223



Internal ID22803166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:53901976..53904100hg38UCSC Ensembl
chr1:54367649..54369773hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg382125
hg192125
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6331267, nsv6327698
Samples
Known GenesDIO1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv198n223
Frequency
Sample Size19652
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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