A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4183122



Internal ID20396992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:12023755..12024675hg38UCSC Ensembl
chr10:12065754..12066674hg19UCSC Ensembl
Cytoband10p14
Allele length
AssemblyAllele length
hg38921
hg19921
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15794673
Samples
Known GenesUPF2
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)nsv4183122
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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