A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15957374



Internal ID20029314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:29410244..30080797hg38UCSC Ensembl
chr15:29702448..30373000hg19UCSC Ensembl
Cytoband15q13.1
Allele length
AssemblyAllele length
hg38670554
hg19670553
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4529963
Supporting Variants
Samples
Known GenesFAM189A1, TJP1
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)nssv15957374
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000184


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