A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15822451



Internal ID19547851
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:77492421..77496204hg38UCSC Ensembl
chr14:77958764..77962547hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg383784
hg193784
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4231722
Supporting Variants
Samples
Known GenesISM2
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)nssv15822451
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000092


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