A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15983133



Internal ID19708387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:19357282..19357283hg38UCSC Ensembl
chr11:19378829..19378830hg19UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4547554
Supporting Variants
Samples
Known GenesNAV2
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)nssv15983133
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000138


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