A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16029744



Internal ID19754998
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:28158697..28158698hg38UCSC Ensembl
chr1:28485208..28485209hg19UCSC Ensembl
Cytoband1p35.3
Allele length
AssemblyAllele length
hg38790
hg19790
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4558717
Supporting Variants
Samples
Known GenesPTAFR
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)nssv16029744
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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