A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15987295



Internal ID20059236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:113090359..113133519hg38UCSC Ensembl
chr9:115852639..115895799hg19UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg3843161
hg1943161
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4188377
Supporting Variants
Samples
Known GenesFAM225A, FAM225B
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)nssv15987295
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.002627


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