A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4257317



Internal ID20449218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:19587586..19589772hg38UCSC Ensembl
chr19:19698395..19700581hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg382187
hg192187
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15960845
Samples
Known GenesPBX4
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)nsv4257317
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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