A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4052882



Internal ID20177783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:93720663..93822582hg38UCSC Ensembl
chr1:94186219..94288138hg19UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg38101920
hg19101920
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15964209
Samples
Known GenesBCAR3
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)nsv4052882
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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