A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4248734



Internal ID20443350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:71487381..71490697hg38UCSC Ensembl
chr15:71779720..71783036hg19UCSC Ensembl
Cytoband15q23
Allele length
AssemblyAllele length
hg383317
hg193317
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15826695
Samples
Known GenesTHSD4
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)nsv4248734
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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