A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15908262



Internal ID19980202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:168663782..168665374hg38UCSC Ensembl
chr5:168090787..168092379hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg381593
hg191593
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4125318
Supporting Variants
Samples
Known GenesSLIT3
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)nssv15908262
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00023


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