A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15790083



Internal ID19862138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:45112652..45115751hg38UCSC Ensembl
chr3:45154144..45157243hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg383100
hg193100
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4345265
Supporting Variants
Samples
Known GenesCDCP1
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)nssv15790083
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000046


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