A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15949095



Internal ID20021035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:9323258..9541515hg38UCSC Ensembl
chr12:9475854..9694111hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38218258
hg19218258
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4192906
Supporting Variants
Samples
Known GenesDDX12P
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)nssv15949095
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000184


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