A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv21n206



Internal ID22755325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:145458587..145472587hg38UCSC Ensembl
chr1:145962220..145976237hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3814001
hg1914018
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6138302, nsv6138317
Samples
Known GenesLOC100288142, LOC101929780, NBPF10
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)dgv21n206
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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