A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15804658



Internal ID19530058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:76471088..76471923hg38UCSC Ensembl
chr11:76182132..76182967hg19UCSC Ensembl
Cytoband11q13.5
Allele length
AssemblyAllele length
hg38836
hg19836
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4204635
Supporting Variants
Samples
Known GenesC11orf30
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)nssv15804658
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer