A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5980980



Internal ID21890323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:13249651..13395879hg38UCSC Ensembl
chr1:13355272..13722339hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg38146229
hg19367068
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17521619
Samples
Known GenesPRAMEF13, PRAMEF15, PRAMEF16, PRAMEF17, PRAMEF18, PRAMEF19, PRAMEF20, PRAMEF21, PRAMEF23, PRAMEF5, PRAMEF6, PRAMEF7, PRAMEF8, PRAMEF9
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5980980
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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