A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15857949



Internal ID19583203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:24092364..24552364hg38UCSC Ensembl
chr20:24073000..24533000hg19UCSC Ensembl
Cytoband20p11.21
Allele length
AssemblyAllele length
hg38460001
hg19460001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4279193
Supporting Variants
Samples
Known GenesFLJ33581, SYNDIG1
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)nssv15857949
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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