A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4191341



Internal ID20402886
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:127715621..127722721hg38UCSC Ensembl
chr9:130477900..130485000hg19UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg387101
hg197101
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15987194
Samples
Known GenesPTRH1, TTC16
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)nsv4191341
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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