A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4246160



Internal ID20441583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:36627255..36638607hg38UCSC Ensembl
chr15:36919456..36930808hg19UCSC Ensembl
Cytoband15q14
Allele length
AssemblyAllele length
hg3811353
hg1911353
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15822820
Samples
Known GenesC15orf41
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 ID32461652
Accession Number(s)nsv4246160
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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