A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4076463



Internal ID19972959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:45787634..45794624hg38UCSC Ensembl
chr3:45829126..45836116hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg386991
hg196991
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15880023
Samples
Known GenesSLC6A20
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)nsv4076463
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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