A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5421126



Internal ID200212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:13248384..13502384hg38UCSC Ensembl
chr1:13354004..13828839hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg38254001
hg19474836
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16894608
Samples
Known GenesLRRC38, PRAMEF13, PRAMEF15, PRAMEF16, PRAMEF17, PRAMEF18, PRAMEF19, PRAMEF20, PRAMEF21, PRAMEF23, PRAMEF5, PRAMEF6, PRAMEF7, PRAMEF8, PRAMEF9
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5421126
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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