A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4263320



Internal ID20453409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:58258171..58261759hg38UCSC Ensembl
chr17:56335532..56339120hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg383589
hg193589
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15836608
Samples
Known GenesLPO
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)nsv4263320
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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