A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5885687



Internal ID22660673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:13239761..13384092hg38UCSC Ensembl
chr1:13345393..13710552hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg38144332
hg19365160
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv24n209
Supporting Variantsnssv17353968
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)nsv5885687
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer