A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5933105



Internal ID22708413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:54523505..54523595hg38UCSC Ensembl
chr14:54990223..54990313hg19UCSC Ensembl
Cytoband14q22.2
Allele length
AssemblyAllele length
hg3891
hg1991
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17377731
Samples
Known GenesCGRRF1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5933105
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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