A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4250956



Internal ID20444801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:36626053..36629076hg38UCSC Ensembl
chr15:36918254..36921277hg19UCSC Ensembl
Cytoband15q14
Allele length
AssemblyAllele length
hg383024
hg193024
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15822819
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)nsv4250956
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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