A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4260046



Internal ID20104435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:4221493..4224387hg38UCSC Ensembl
chr20:4202140..4205034hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg382895
hg192895
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15856545
Samples
Known GenesADRA1D
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)nsv4260046
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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