A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4562930



Internal ID20292819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:99250321..99250322hg38UCSC Ensembl
chr12:99644099..99644100hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16003623
Samples
Known GenesANKS1B
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)nsv4562930
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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