A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15805736



Internal ID19531136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:125178385..125181947hg38UCSC Ensembl
chr11:125048281..125051843hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg383563
hg193563
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4200180
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 ID12345678
Accession Number(s)nssv15805736
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000092


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