A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5942154



Internal ID22717587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:55893038..55893188hg38UCSC Ensembl
chr16:55926950..55927100hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg38151
hg19151
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17369892
Samples
Known GenesCES5A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5942154
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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