A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4179741



Internal ID20047907
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:122268176..122377238hg38UCSC Ensembl
chr9:125030455..125139517hg19UCSC Ensembl
Cytoband9q33.2
Allele length
AssemblyAllele length
hg38109063
hg19109063
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15940268
Samples
Known GenesMRRF, PTGS1
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)nsv4179741
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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