A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15986901



Internal ID19712155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:104502037..104529881hg38UCSC Ensembl
chr9:107264318..107292162hg19UCSC Ensembl
Cytoband9q31.1
Allele length
AssemblyAllele length
hg3827845
hg1927845
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4175307
Supporting Variants
Samples
Known GenesOR13C4, OR13F1
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)nssv15986901
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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