A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15962948



Internal ID20034888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:243014030..243230603hg38UCSC Ensembl
chr1:243177332..243393905hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38216574
hg19216574
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4059094
Supporting Variants
Samples
Known GenesCEP170, LOC731275
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)nssv15962948
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000092


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