A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15940543



Internal ID20012483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:15218888..15221581hg38UCSC Ensembl
chr9:15218886..15221579hg19UCSC Ensembl
Cytoband9p22.3
Allele length
AssemblyAllele length
hg382694
hg192694
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4182954
Supporting Variants
Samples
Known GenesTTC39B
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)nssv15940543
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000369


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