A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15953173



Internal ID19678427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:56674815..56675580hg38UCSC Ensembl
chr12:57068599..57069364hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg38766
hg19766
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4527428
Supporting Variants
Samples
Known GenesPTGES3
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 ID12345678
Accession Number(s)nssv15953173
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000047


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