A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15948787



Internal ID19674041
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 StatusS
Merged Variantsnsv4185586
Supporting Variants
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)nssv15948787
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000092


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