A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15954774



Internal ID19680028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:11240808..11343837hg38UCSC Ensembl
chr16:11334665..11437694hg19UCSC Ensembl
Cytoband16p13.13
Allele length
AssemblyAllele length
hg38103030
hg19103030
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4249713
Supporting Variants
Samples
Known GenesPRM1, PRM2, PRM3, SOCS1, TNP2
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)nssv15954774
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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