A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15961940



Internal ID19687194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:109224924..109227735hg38UCSC Ensembl
chr1:109767546..109770357hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg382812
hg192812
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4069944
Supporting Variants
Samples
Known GenesSARS
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)nssv15961940
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000415


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