A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15983770



Internal ID20055710
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:97319091..97320040hg38UCSC Ensembl
chr8:98331319..98332268hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg38950
hg19950
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4152788
Supporting Variants
Samples
Known Genes
MethodSequencing
AnalysisSV calls were generated using multi-algorithm consensus pipeline involving raw evidence assessment, filtering, clustering, genotyping, alternative allele structure resolution, and gene annotation. These methods are described in detail in the gnomAD-SV preprint [Collins*, Brand*, et al., bioRxiv (2019)|https://www.biorxiv.org/content/10.1101/578674v1], and are largely based on methods developed in [Werling et al., Nat. Genet. (2018)|https://www.ncbi.nlm.nih.gov/pubmed/29700473].
Platform
Comments
ReferencegnomAD_Structural_Variants
Pubmed ID32461652
Accession Number(s)nssv15983770
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000422


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