A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15805811



Internal ID19877897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:104887017..104911174hg38UCSC Ensembl
chr11:104757744..104781901hg19UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg3824158
hg1924158
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4199275
Supporting Variants
Samples
Known GenesCASP12, LOC643733
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)nssv15805811
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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