A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15991367



Internal ID19716621
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:63255528..63255529hg38UCSC Ensembl
chr11:63023000..63023001hg19UCSC Ensembl
Cytoband11q12.3
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4551917
Supporting Variants
Samples
Known GenesMIR3680-1, MIR3680-2
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)nssv15991367
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000185


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