A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4206956



Internal ID20067526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:17992817..18036624hg38UCSC Ensembl
chr11:18014364..18058171hg19UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg3843808
hg1943808
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15948312
Samples
Known GenesSERGEF, TPH1
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)nsv4206956
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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