A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4178828



Internal ID20393959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:21257910..21280551hg38UCSC Ensembl
chr9:21257909..21280550hg19UCSC Ensembl
Cytoband9p21.3
Allele length
AssemblyAllele length
hg3822642
hg1922642
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15985376
Samples
Known GenesIFNA22P
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)nsv4178828
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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