A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15800127



Internal ID19872213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:122316583..122332337hg38UCSC Ensembl
chr10:124076098..124091852hg19UCSC Ensembl
Cytoband10q26.13
Allele length
AssemblyAllele length
hg3815755
hg1915755
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4193416
Supporting Variants
Samples
Known GenesBTBD16
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)nssv15800127
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000092


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