A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4292034



Internal ID20183721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:58495907..58503879hg38UCSC Ensembl
chr20:57070963..57078935hg19UCSC Ensembl
Cytoband20q13.32
Allele length
AssemblyAllele length
hg387973
hg197973
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15964934
Samples
Known GenesAPCDD1L
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 ID32461652
Accession Number(s)nsv4292034
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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