A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5945745



Internal ID22721226
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:63457328..63464689hg38UCSC Ensembl
chr14:63924046..63931407hg19UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg387362
hg197362
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17371275
Samples
Known GenesPPP2R5E
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5945745
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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