A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15954623



Internal ID20026563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:70005767..70124427hg38UCSC Ensembl
chr13:70579899..70698559hg19UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg38118661
hg19118661
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4225648
Supporting Variants
Samples
Known GenesATXN8OS, KLHL1
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)nssv15954623
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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