A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15953860



Internal ID20025800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:29580411..29581361hg38UCSC Ensembl
chr13:30154548..30155498hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg38951
hg19951
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4229470
Supporting Variants
Samples
Known GenesSLC7A1
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)nssv15953860
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00083


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