A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4138306



Internal ID20017916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:73478277..73498277hg38UCSC Ensembl
chr6:74188000..74208000hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg3820001
hg1920001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15910093
Samples
Known GenesMTO1
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)nsv4138306
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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