A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15819374



Internal ID19544774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:30887530..30889571hg38UCSC Ensembl
chr14:31356736..31358777hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg382042
hg192042
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4226965
Supporting Variants
Samples
Known GenesCOCH, LOC100506071
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)nssv15819374
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000092


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