A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4567659



Internal ID20297543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:54138933..54141328hg38UCSC Ensembl
chr1:54604606..54607001hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg382396
hg192396
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15788848
Samples
Known GenesCDCP2
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
Commentscomplex variant
ReferencegnomAD_Structural_Variants
Pubmed ID32461652
Accession Number(s)nsv4567659
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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