A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15984843



Internal ID19710097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:50675..1670652hg38UCSC Ensembl
chr9:50675..1670652hg19UCSC Ensembl
Cytoband9p24.3
Allele length
AssemblyAllele length
hg381619978
hg191619978
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4171685
Supporting Variants
Samples
Known GenesC9orf66, CBWD1, DMRT1, DMRT2, DMRT3, DOCK8, FOXD4, KANK1
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)nssv15984843
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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