A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4276965



Internal ID20115068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:18600895..18640431hg38UCSC Ensembl
chr20:18581539..18621075hg19UCSC Ensembl
Cytoband20p11.23
Allele length
AssemblyAllele length
hg3839537
hg1939537
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15859544
Samples
Known GenesDTD1
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)nsv4276965
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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