A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv24n209



Internal ID22826099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:13231142..13384979hg38UCSC Ensembl
chr1:13336718..13711439hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg38153838
hg19374722
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv5886072, nsv5885687, nsv5879679, nsv5871474
Samples
Known GenesPRAMEF13, PRAMEF15, PRAMEF16, PRAMEF18, PRAMEF19, PRAMEF20, PRAMEF21, PRAMEF23, PRAMEF5, PRAMEF6, PRAMEF7, PRAMEF8, PRAMEF9
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)dgv24n209
Frequency
Sample Size914
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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