A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15914979



Internal ID19986919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:123270683..123272737hg38UCSC Ensembl
chr6:123591828..123593882hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg382055
hg192055
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4142818
Supporting Variants
Samples
Known GenesTRDN
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)nssv15914979
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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