A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4185586



Internal ID20052082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:68412550..68666850hg38UCSC Ensembl
chr10:70172307..70426607hg19UCSC Ensembl
Cytoband10q21.3
Allele length
AssemblyAllele length
hg38254301
hg19254301
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15948787
Samples
Known GenesDNA2, SLC25A16, TET1
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)nsv4185586
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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