A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4062858



Internal ID20309738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:39914557..40018906hg38UCSC Ensembl
chr2:40141697..40246046hg19UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg38104350
hg19104350
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15968904
Samples
Known GenesSLC8A1-AS1
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)nsv4062858
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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