A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4126066



Internal ID20009155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:118948750..119020725hg38UCSC Ensembl
chr5:118284445..118356420hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg3871976
hg1971976
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2051n166
Supporting Variantsnssv15905244
Samples
Known GenesDTWD2, MIR1244-1, MIR1244-2, MIR1244-3
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)nsv4126066
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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