A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15953139



Internal ID20025079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:54926172..54993313hg38UCSC Ensembl
chr12:55319956..55387097hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg3867142
hg1967142
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4528736
Supporting Variants
Samples
Known GenesTESPA1
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)nssv15953139
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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