A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15805739



Internal ID19877825
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:125228124..125231726hg38UCSC Ensembl
chr11:125098020..125101622hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg383603
hg193603
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4196656
Supporting Variants
Samples
Known GenesPKNOX2
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)nssv15805739
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000092


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