A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5944143



Internal ID22719603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:26281566..26281623hg38UCSC Ensembl
chr13:26855703..26855760hg19UCSC Ensembl
Cytoband13q12.13
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17378171
Samples
Known GenesCDK8
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5944143
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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