A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4235173



Internal ID20434250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:15092454..15154158hg38UCSC Ensembl
chr17:14995771..15057475hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg3861705
hg1961705
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15833687
Samples
Known GenesCDRT8
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 ID32461652
Accession Number(s)nsv4235173
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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