A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15876476



Internal ID19601730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:191313155..191313267hg38UCSC Ensembl
chr2:192177881..192177993hg19UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg38113
hg19113
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4090310
Supporting Variants
Samples
Known GenesMYO1B
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)nssv15876476
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000323


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