A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15801952



Internal ID19874038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:62730369..62735121hg38UCSC Ensembl
chr11:62497841..62502593hg19UCSC Ensembl
Cytoband11q12.3
Allele length
AssemblyAllele length
hg384753
hg194753
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4193895
Supporting Variants
Samples
Known GenesTTC9C
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)nssv15801952
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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