A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4571864



Internal ID19955056
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:181547020..181547021hg38UCSC Ensembl
chr2:182411747..182411748hg19UCSC Ensembl
Cytoband2q31.3
Allele length
AssemblyAllele length
hg386008
hg196008
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16041700
Samples
Known GenesCERKL
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)nsv4571864
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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