A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5914622



Internal ID22689839
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:46303407..46303762hg38UCSC Ensembl
chr11:46324958..46325313hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg38356
hg19356
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17357533
Samples
Known GenesCREB3L1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5914622
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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