A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4084945



Internal ID19979216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:157819216..157821254hg38UCSC Ensembl
chr2:158675728..158677766hg19UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg382039
hg192039
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15870794
Samples
Known GenesACVR1
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 ID12345678
Accession Number(s)nsv4084945
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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