A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15963650



Internal ID19688905
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:186273745..186273898hg38UCSC Ensembl
chr1:186242877..186243030hg19UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg38154
hg19154
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4069911
Supporting Variants
Samples
Known GenesMIR548F1, RNU6-72P
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)nssv15963650
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000462


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