A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4087705



Internal ID19981243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:53284545..53285325hg38UCSC Ensembl
chr3:53318563..53319343hg19UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg38781
hg19781
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15877947
Samples
Known GenesDCP1A
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)nsv4087705
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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