A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4047428



Internal ID20173990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:43143567..43159295hg38UCSC Ensembl
chr1:43609238..43624966hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg3815729
hg1915729
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15851117
Samples
Known GenesFAM183A
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 ID32461652
Accession Number(s)nsv4047428
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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