A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5945452



Internal ID22720930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:40768342..40768420hg38UCSC Ensembl
chr13:41342478..41342556hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg3879
hg1979
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17381057
Samples
Known GenesMRPS31
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5945452
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