A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15787460



Internal ID19512798
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:120861989..120864166hg38UCSC Ensembl
chr10:122621501..122623678hg19UCSC Ensembl
Cytoband10q26.12
Allele length
AssemblyAllele length
hg382178
hg192178
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4335917
Supporting Variants
Samples
Known GenesMIR5694, WDR11
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
Commentscomplex variant
ReferencegnomAD_Structural_Variants
Pubmed ID12345678
Accession Number(s)nssv15787460
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000415


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