A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15946570



Internal ID19671824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:30776879..30884356hg38UCSC Ensembl
chr11:30798426..30905903hg19UCSC Ensembl
Cytoband11p14.1
Allele length
AssemblyAllele length
hg38107478
hg19107478
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4202645
Supporting Variants
Samples
Known GenesDCDC5
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)nssv15946570
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000138


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