A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5421480



Internal ID200550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:26376203..26376203hg38UCSC Ensembl
chr13:26950340..26950340hg19UCSC Ensembl
Cytoband13q12.13
Allele length
AssemblyAllele length
hg38275
hg19275
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17686380
Samples
Known GenesCDK8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5421480
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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