A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15985996



Internal ID19711250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:27561002..27574002hg38UCSC Ensembl
chr9:27561000..27574000hg19UCSC Ensembl
Cytoband9p21.2
Allele length
AssemblyAllele length
hg3813001
hg1913001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4181376
Supporting Variants
Samples
Known GenesC9orf72
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)nssv15985996
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000047


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