A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15958215



Internal ID20030155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:28157578..28162303hg38UCSC Ensembl
chr17:26484604..26489329hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg384726
hg194726
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4245510
Supporting Variants
Samples
Known GenesNLK
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)nssv15958215
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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