A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4091128



Internal ID19983727
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:191835274..191929274hg38UCSC Ensembl
chr2:192700000..192794000hg19UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg3894001
hg1994001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15970242
Samples
Known GenesSDPR
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)nsv4091128
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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