A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15938238



Internal ID20010178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:116499918..116578118hg38UCSC Ensembl
chr9:119262197..119340397hg19UCSC Ensembl
Cytoband9q33.1
Allele length
AssemblyAllele length
hg3878201
hg1978201
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4178142
Supporting Variants
Samples
Known GenesASTN2, LOC100128505
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)nssv15938238
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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