A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15849836



Internal ID19575163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:244838656..244839633hg38UCSC Ensembl
chr1:245001958..245002935hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38978
hg19978
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4054313
Supporting Variants
Samples
Known GenesCOX20
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)nssv15849836
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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