A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4255857



Internal ID20448175
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:20124893..20213497hg38UCSC Ensembl
chr19:20235702..20324306hg19UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg3888605
hg1988605
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15960865
Samples
Known GenesZNF486
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)nsv4255857
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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