A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15997447



Internal ID20069403
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:103349967..103349968hg38UCSC Ensembl
chr11:103220695..103220696hg19UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg38287
hg19287
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4557652
Supporting Variants
Samples
Known GenesDYNC2H1
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 ID32461652
Accession Number(s)nssv15997447
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000092


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