A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4058097



Internal ID20181551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:21693459..21693735hg38UCSC Ensembl
chr2:21916331..21916607hg19UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg38277
hg19277
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15967771
Samples
Known GenesLOC645949
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)nsv4058097
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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