A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15950835



Internal ID19676089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:20486841..20528341hg38UCSC Ensembl
chr14:20955000..20996500hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3841501
hg1941501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4221954
Supporting Variants
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)nssv15950835
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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