A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4252418



Internal ID20099104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:43352143..43393954hg38UCSC Ensembl
chr15:43644341..43686152hg19UCSC Ensembl
Cytoband15q15.3
Allele length
AssemblyAllele length
hg3841812
hg1941812
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15956452
Samples
Known GenesADAL, RNU6-28P, TUBGCP4, ZSCAN29
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)nsv4252418
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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