A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15822387



Internal ID19547787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:73945033..73956246hg38UCSC Ensembl
chr14:74411736..74422949hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3811214
hg1911214
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4218587
Supporting Variants
Samples
Known GenesCOQ6, FAM161B
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)nssv15822387
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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