A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv513n206



Internal ID22755817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:112875270..112906801hg38UCSC Ensembl
chr8:113887499..113919030hg19UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg3831532
hg1931532
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv5490562, nsv5492532
Samples
Known GenesCSMD3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)dgv513n206
Frequency
Sample Size3202
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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