A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15856828



Internal ID19928768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:491687..499337hg38UCSC Ensembl
chr1:320000..327650hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg387651
hg197651
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4049200
Supporting Variants
Samples
Known GenesLOC100132062, LOC100132287, LOC100133331
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)nssv15856828
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.151332


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