A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4052086



Internal ID19830615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:46144772..46208450hg38UCSC Ensembl
chr1:46610444..46674122hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg3863679
hg1963679
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv64n166
Supporting Variantsnssv15963135
Samples
Known GenesLURAP1, POMGNT1, TSPAN1
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)nsv4052086
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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