A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15914310



Internal ID19986250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:118052383..118057077hg38UCSC Ensembl
chr6:118373546..118378240hg19UCSC Ensembl
Cytoband6q22.2
Allele length
AssemblyAllele length
hg384695
hg194695
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4144786
Supporting Variants
Samples
Known GenesSLC35F1
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)nssv15914310
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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