A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4181947



Internal ID20049471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:67875242..67890242hg38UCSC Ensembl
chr10:69635000..69650000hg19UCSC Ensembl
Cytoband10q21.3
Allele length
AssemblyAllele length
hg3815001
hg1915001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15795795
Samples
Known GenesSIRT1
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)nsv4181947
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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