A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15963134



Internal ID19688389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:46075991..46194429hg38UCSC Ensembl
chr1:46541663..46660101hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg38118439
hg19118439
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4050114
Supporting Variants
Samples
Known GenesPIK3R3, POMGNT1, TSPAN1
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)nssv15963134
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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