A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15914160



Internal ID19639414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:98883261..98947398hg38UCSC Ensembl
chr6:99331137..99395274hg19UCSC Ensembl
Cytoband6q16.1
Allele length
AssemblyAllele length
hg3864138
hg1964138
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4134089
Supporting Variants
Samples
Known GenesFBXL4
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)nssv15914160
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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