A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4567498



Internal ID20297383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:216885183..216885184hg38UCSC Ensembl
chr1:217058525..217058526hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38322
hg19322
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16030259
Samples
Known GenesESRRG
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)nsv4567498
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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