A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16053956



Internal ID20125912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:36322162..36322163hg38UCSC Ensembl
chr4:36323784..36323785hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg382760
hg192760
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4560936
Supporting Variants
Samples
Known GenesDTHD1
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)nssv16053956
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001338


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