A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4233367



Internal ID20086358
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:101486791..101773813hg38UCSC Ensembl
chr15:102026996..102314016hg19UCSC Ensembl
Cytoband15q26.3
Allele length
AssemblyAllele length
hg38287023
hg19287021
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv830n166
Supporting Variantsnssv15953967
Samples
Known GenesPCSK6, TARSL2, TM2D3
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)nsv4233367
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer