A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16003450



Internal ID19728704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:110646277..110646278hg38UCSC Ensembl
chr12:111084082..111084083hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg38322
hg19322
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4554875
Supporting Variants
Samples
Known GenesTCTN1
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)nssv16003450
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.010099


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