A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15939343



Internal ID20011283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:9119307..9119377hg38UCSC Ensembl
chr9:9119307..9119377hg19UCSC Ensembl
Cytoband9p23
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4171893
Supporting Variants
Samples
Known GenesPTPRD
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)nssv15939343
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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