A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4213110



Internal ID20071981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:102787325..102788616hg38UCSC Ensembl
chr13:103439675..103440966hg19UCSC Ensembl
Cytoband13q33.1
Allele length
AssemblyAllele length
hg381292
hg191292
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15819098
Samples
Known GenesKDELC1
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)nsv4213110
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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