A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4266041



Internal ID20108606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:44923813..44925179hg38UCSC Ensembl
chr17:43001181..43002547hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg381367
hg191367
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15836309
Samples
Known GenesKIF18B
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)nsv4266041
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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