A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5871474



Internal ID22646412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:13231142..13377416hg38UCSC Ensembl
chr1:13336718..13703874hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg38146275
hg19367157
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv24n209
Supporting Variantsnssv17365356
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)nsv5871474
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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