A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4183487



Internal ID20397250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:80211744..80227244hg38UCSC Ensembl
chr10:81971500..81987000hg19UCSC Ensembl
Cytoband10q22.3
Allele length
AssemblyAllele length
hg3815501
hg1915501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15948853
Samples
Known GenesLINC00857
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)nsv4183487
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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