A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16031634



Internal ID20103590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:13719215..13719216hg38UCSC Ensembl
chr20:13699862..13699863hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg38291
hg19291
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4318333
Supporting Variants
Samples
Known GenesESF1
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)nssv16031634
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000092


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