A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15961708



Internal ID20033648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:46186193..46281595hg38UCSC Ensembl
chr19:46689450..46784852hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg3895403
hg1995403
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4264958
Supporting Variants
Samples
Known GenesDKFZp434J0226, IGFL1, RNU6-66P
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)nssv15961708
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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