A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4123575



Internal ID20007395
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:16740681..17139162hg38UCSC Ensembl
chr5:16740790..17139271hg19UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg38398482
hg19398482
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1955n166
Supporting Variantsnssv15976647
Samples
Known GenesLOC285696, MYO10
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)nsv4123575
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