A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4239859



Internal ID20090763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:74879952..74892281hg38UCSC Ensembl
chr15:75172293..75184622hg19UCSC Ensembl
Cytoband15q24.1
Allele length
AssemblyAllele length
hg3812330
hg1912330
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15957556
Samples
Known GenesMPI
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)nsv4239859
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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