A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4529570



Internal ID19913000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:20588840..20780841hg38UCSC Ensembl
chr14:21056999..21249000hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38192002
hg19192002
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15950839
Samples
Known GenesANG, EDDM3A, EDDM3B, OR6S1, RNASE11, RNASE12, RNASE4
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 ID12345678
Accession Number(s)nsv4529570
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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