A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4191957



Internal ID20056650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:101434391..101690771hg38UCSC Ensembl
chr10:103194148..103450528hg19UCSC Ensembl
Cytoband10q24.32
Allele length
AssemblyAllele length
hg38256381
hg19256381
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv288n166
Supporting Variantsnssv15946766
Samples
Known GenesBTRC, DPCD, FBXW4, MIR3158-1, MIR3158-2, POLL
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)nsv4191957
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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