A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5890413



Internal ID22665440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:134208311..134209485hg38UCSC Ensembl
chr5:133544002..133545176hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg381175
hg191175
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17422126
Samples
Known GenesPPP2CA
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5890413
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