A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4249713



Internal ID20097316
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 StatusM
Merged Variants
Supporting Variantsnssv15954774
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)nsv4249713
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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