A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4243621



Internal ID20439897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:56231155..56242569hg38UCSC Ensembl
chr15:56523353..56534767hg19UCSC Ensembl
Cytoband15q21.3
Allele length
AssemblyAllele length
hg3811415
hg1911415
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15957518
Samples
Known GenesRFX7
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)nsv4243621
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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