A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5671390



Internal ID21619695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:37958888..37958888hg38UCSC Ensembl
chr22:38354895..38354895hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg385000
hg195000
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17130041
SamplesHG03065
Known GenesPOLR2F
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5671390
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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