A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4181465



Internal ID20049110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:70082132..70164010hg38UCSC Ensembl
chr10:71841888..71923766hg19UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg3881879
hg1981879
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15951431
Samples
Known GenesAIFM2, H2AFY2, SAR1A, TYSND1
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)nsv4181465
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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