A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5879074



Internal ID22654041
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:47842084..47844328hg38UCSC Ensembl
chr2:48069223..48071467hg19UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg382245
hg192245
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17408674
Samples
Known GenesFBXO11
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5879074
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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