A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16083349



Internal ID19808619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:4814241..4814242hg38UCSC Ensembl
chr9:4814241..4814242hg19UCSC Ensembl
Cytoband9p24.1
Allele length
AssemblyAllele length
hg38292
hg19292
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4540070
Supporting Variants
Samples
Known GenesRCL1
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)nssv16083349
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.146416


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