A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4179016



Internal ID20394097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:87400743..87437743hg38UCSC Ensembl
chr10:89160500..89197500hg19UCSC Ensembl
Cytoband10q23.2
Allele length
AssemblyAllele length
hg3837001
hg1937001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15951530
Samples
Known GenesLINC00864
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)nsv4179016
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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