A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4181943



Internal ID20396154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:105631576..105633402hg38UCSC Ensembl
chr9:108393857..108395683hg19UCSC Ensembl
Cytoband9q31.2
Allele length
AssemblyAllele length
hg381827
hg191827
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15937280
Samples
Known GenesFKTN
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)nsv4181943
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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