A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15979015



Internal ID19704269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:56412152..56489100hg38UCSC Ensembl
chr6:56276950..56353898hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg3876949
hg1976949
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4146502
Supporting Variants
Samples
Known GenesDST, RNU6-71P
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 ID12345678
Accession Number(s)nssv15979015
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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