A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16057164



Internal ID20129120
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:140682075..140682076hg38UCSC Ensembl
chr4:141603229..141603230hg19UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38475
hg19475
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4557526
Supporting Variants
Samples
Known GenesTBC1D9
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)nssv16057164
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000599


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