A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15848549



Internal ID19573901
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:222720047..222720794hg38UCSC Ensembl
chr1:222893389..222894136hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38748
hg19748
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4059517
Supporting Variants
Samples
Known GenesBROX
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)nssv15848549
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000139


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