A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4236698



Internal ID20435283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:31147658..31354073hg38UCSC Ensembl
chr15:31439861..31646276hg19UCSC Ensembl
Cytoband15q13.3
Allele length
AssemblyAllele length
hg38206416
hg19206416
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15957400
Samples
Known GenesKLF13, LOC283710, TRPM1
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)nsv4236698
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