A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4239652



Internal ID20437295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:73610774..73623239hg38UCSC Ensembl
chr15:73903115..73915580hg19UCSC Ensembl
Cytoband15q24.1
Allele length
AssemblyAllele length
hg3812466
hg1912466
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15956837
Samples
Known GenesNPTN
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)nsv4239652
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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