A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15949556



Internal ID20021496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:264259..295386hg38UCSC Ensembl
chr11:264259..295386hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg3831128
hg1931128
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4211016
Supporting Variants
Samples
Known GenesATHL1, NLRP6
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)nssv15949556
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000138


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