A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15948286



Internal ID19673540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:14485859..14794708hg38UCSC Ensembl
chr11:14507405..14816254hg19UCSC Ensembl
Cytoband11p15.2
Allele length
AssemblyAllele length
hg38308850
hg19308850
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4196223
Supporting Variants
Samples
Known GenesCOPB1, PDE3B, PSMA1
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 ID12345678
Accession Number(s)nssv15948286
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000092


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