A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15928113



Internal ID20000053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:11165490..11192491hg38UCSC Ensembl
chr8:11023000..11050000hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3827002
hg1927001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4172254
Supporting Variants
Samples
Known GenesXKR6
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)nssv15928113
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00014


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