A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4200182



Internal ID20062622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:122663022..122718674hg38UCSC Ensembl
chr10:124422538..124478190hg19UCSC Ensembl
Cytoband10q26.13
Allele length
AssemblyAllele length
hg3855653
hg1955653
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15800146
Samples
Known GenesC10orf120
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 ID12345678
Accession Number(s)nsv4200182
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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