A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15985849



Internal ID19711103
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:41014163..41102136hg38UCSC Ensembl
chr9:68748400..68837473hg19UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg3887974
hg1989074
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4174149
Supporting Variants
Samples
Known Genes
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)nssv15985849
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.023783


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