A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15950906



Internal ID19676160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:24135791..24147791hg38UCSC Ensembl
chr14:24605000..24617000hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg3812001
hg1912001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4225607
Supporting Variants
Samples
Known GenesEMC9, MIR7703, PSME1, PSME2, RNF31
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)nssv15950906
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.002047


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