A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv222n206



Internal ID22755526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:80313472..80315778hg38UCSC Ensembl
chr17:78287272..78289578hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg382307
hg192307
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6145703, nsv5523387
Samples
Known GenesRNF213
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)dgv222n206
Frequency
Sample Size3202
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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