A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15963884



Internal ID19689138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:23352113..23364913hg38UCSC Ensembl
chr20:23332750..23345550hg19UCSC Ensembl
Cytoband20p11.21
Allele length
AssemblyAllele length
hg3812801
hg1912801
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4279575
Supporting Variants
Samples
Known GenesGZF1, NXT1
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)nssv15963884
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.018839


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