A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15978619



Internal ID20050559
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:97779774..97785124hg38UCSC Ensembl
chr6:98227650..98233000hg19UCSC Ensembl
Cytoband6q16.1
Allele length
AssemblyAllele length
hg385351
hg195351
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4150671
Supporting Variants
Samples
Known Genes
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)nssv15978619
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.002552


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