A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4139901



Internal ID20019089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:41700248..41701667hg38UCSC Ensembl
chr6:41667986..41669405hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg381420
hg191420
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15911208
Samples
Known GenesTFEB
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)nsv4139901
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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