A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4182185



Internal ID20049653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:21038118..21284702hg38UCSC Ensembl
chr9:21038117..21284701hg19UCSC Ensembl
Cytoband9p21.3
Allele length
AssemblyAllele length
hg38246585
hg19246585
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15935724
Samples
Known GenesIFNA10, IFNA14, IFNA16, IFNA17, IFNA21, IFNA22P, IFNA4, IFNA7, IFNB1, IFNW1
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)nsv4182185
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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