A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4544038



Internal ID20273913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:60371987..60371988hg38UCSC Ensembl
chr15:60664186..60664187hg19UCSC Ensembl
Cytoband15q22.2
Allele length
AssemblyAllele length
hg38374
hg19374
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16013311
Samples
Known GenesANXA2
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)nsv4544038
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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