A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4268189



Internal ID20456804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:46735034..46735736hg38UCSC Ensembl
chr19:47238291..47238993hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg38703
hg19703
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15961724
Samples
Known GenesSTRN4
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)nsv4268189
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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