A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5972916



Internal ID22747851
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:26339726..26339726hg38UCSC Ensembl
chr13:26913863..26913863hg19UCSC Ensembl
Cytoband13q12.13
Allele length
AssemblyAllele length
hg38224
hg19224
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17382028
Samples
Known GenesCDK8
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5972916
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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