A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15948303



Internal ID20020243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:17009164..17013156hg38UCSC Ensembl
chr11:17030711..17034703hg19UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg383993
hg193993
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4200606
Supporting Variants
Samples
Known GenesPLEKHA7
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)nssv15948303
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000092


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