A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16018040



Internal ID20089996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:56990490..56990491hg38UCSC Ensembl
chr17:55067851..55067852hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg38190
hg19190
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4503736
Supporting Variants
Samples
Known GenesSCPEP1
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)nssv16018040
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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