A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15819039



Internal ID19891125
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:101386539..101387230hg38UCSC Ensembl
chr13:102038890..102039581hg19UCSC Ensembl
Cytoband13q33.1
Allele length
AssemblyAllele length
hg38692
hg19692
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4230424
Supporting Variants
Samples
Known GenesNALCN
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)nssv15819039
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.0008


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