A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4213630



Internal ID20072356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:20501841..20538841hg38UCSC Ensembl
chr14:20970000..21007000hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3837001
hg1937001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15819578
Samples
Known GenesRNASE10
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)nsv4213630
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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