A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4231777



Internal ID20431950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:52447412..52447485hg38UCSC Ensembl
chr13:53021547..53021620hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15954511
Samples
Known GenesVPS36
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)nsv4231777
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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