A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17686381



Internal ID110047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:26397546..26397597hg38UCSC Ensembl
chr13:26971683..26971734hg19UCSC Ensembl
Cytoband13q12.13
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5433788
Supporting Variants
Samples
Known GenesCDK8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17686381
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00281


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