A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15793955



Internal ID19866038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:50562053..50562369hg38UCSC Ensembl
chr10:52321813..52322129hg19UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg38317
hg19317
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4181016
Supporting Variants
Samples
Known GenesSGMS1
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)nssv15793955
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000094


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