A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4560276



Internal ID20290159
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:110321961..110321962hg38UCSC Ensembl
chr12:110759766..110759767hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg382524
hg192524
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16003434
Samples
Known GenesATP2A2
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)nsv4560276
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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