A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15963339



Internal ID19688594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:152995640..153019458hg38UCSC Ensembl
chr1:152968116..152991934hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3823819
hg1923819
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4057323
Supporting Variants
Samples
Known GenesSPRR3
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)nssv15963339
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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