A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16040948



Internal ID20112904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:171033547..171033548hg38UCSC Ensembl
chr2:171890057..171890058hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38241
hg19241
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4465021
Supporting Variants
Samples
Known GenesTLK1
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)nssv16040948
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.012241


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