A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15844364



Internal ID19569764
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:17401191..17418191hg38UCSC Ensembl
chr19:17512000..17529000hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg3817001
hg1917001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4270939
Supporting Variants
Samples
Known GenesBST2
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)nssv15844364
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000051


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