A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4054287



Internal ID20178814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:43860969..43884056hg38UCSC Ensembl
chr2:44088108..44111195hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3823088
hg1923088
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15968957
Samples
Known GenesABCG8
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)nsv4054287
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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