A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5967473



Internal ID22742408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:28691572..28691572hg38UCSC Ensembl
chr8:28549089..28549089hg19UCSC Ensembl
Cytoband8p21.1
Allele length
AssemblyAllele length
hg38182
hg19182
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17434204
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5967473
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer