A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15788893



Internal ID19860940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:9022942..9043152hg38UCSC Ensembl
chr1:9083001..9103211hg19UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg3820211
hg1920211
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4329972
Supporting Variants
Samples
Known GenesSLC2A5, SLC2A7
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
Commentscomplex variant
ReferencegnomAD_Structural_Variants
Pubmed ID32461652
Accession Number(s)nssv15788893
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000046


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