A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16021061



Internal ID19746315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:59152232..59152233hg38UCSC Ensembl
chr18:56819464..56819465hg19UCSC Ensembl
Cytoband18q21.32
Allele length
AssemblyAllele length
hg38322
hg19322
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4540472
Supporting Variants
Samples
Known GenesSEC11C
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)nssv16021061
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.105097


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