A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4127512



Internal ID20010213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:55801765..55926942hg38UCSC Ensembl
chr5:55097593..55222770hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38125178
hg19125178
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15902241
Samples
Known GenesDDX4, IL31RA
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)nsv4127512
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