A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5903845



Internal ID22679016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:134344942..134354823hg38UCSC Ensembl
chr5:133680633..133690514hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg389882
hg199882
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17420393
Samples
Known GenesCDKL3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5903845
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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