A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4191294



Internal ID20402852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:28807908..28865813hg38UCSC Ensembl
chr9:28807906..28865811hg19UCSC Ensembl
Cytoband9p21.1
Allele length
AssemblyAllele length
hg3857906
hg1957906
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15986016
Samples
Known GenesLINGO2, MIR876
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)nsv4191294
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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