A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4518077



Internal ID20248196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:21978006..22014507hg38UCSC Ensembl
chr1:22304499..22341000hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg3836502
hg1936502
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15966090
Samples
Known GenesCELA3A, CELA3B
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)nsv4518077
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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