A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15799577



Internal ID19871663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:19159519..19161734hg38UCSC Ensembl
chr11:19181066..19183281hg19UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg382216
hg192216
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4196159
Supporting Variants
Samples
Known GenesZDHHC13
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 ID32461652
Accession Number(s)nssv15799577
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.010602


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