A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4184064



Internal ID20397657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:21154303..21197543hg38UCSC Ensembl
chr9:21154302..21197542hg19UCSC Ensembl
Cytoband9p21.3
Allele length
AssemblyAllele length
hg3843241
hg1943241
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2741n166
Supporting Variantsnssv15935735
Samples
Known GenesIFNA21, IFNA4
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)nsv4184064
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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