A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15978537



Internal ID20050477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:46398837..46417515hg38UCSC Ensembl
chr6:46366574..46385252hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg3818679
hg1918679
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4137137
Supporting Variants
Samples
Known GenesRCAN2
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)nssv15978537
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000092


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