A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15822587



Internal ID19894673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:95138212..95139147hg38UCSC Ensembl
chr14:95604549..95605484hg19UCSC Ensembl
Cytoband14q32.13
Allele length
AssemblyAllele length
hg38936
hg19936
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4529730
Supporting Variants
Samples
Known GenesDICER1
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)nssv15822587
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000093


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