A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8n206



Internal ID22755312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:9259168..9351895hg38UCSC Ensembl
chr1:9319227..9411954hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg3892728
hg1992728
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv5418877, nsv5424071
Samples
Known GenesH6PD, SPSB1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)dgv8n206
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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