A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4530547



Internal ID20260666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:76494155..76657657hg38UCSC Ensembl
chr14:76960498..77124000hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg38163503
hg19163503
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15952782
Samples
Known GenesESRRB
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)nsv4530547
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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