A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16018846



Internal ID19744100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:76139083..76139084hg38UCSC Ensembl
chr17:74135164..74135165hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4551528
Supporting Variants
Samples
Known GenesFOXJ1
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)nssv16018846
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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