A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4559391



Internal ID20289273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:74595750..74595751hg38UCSC Ensembl
chr1:75061434..75061435hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg385235
hg195235
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16025779
Samples
Known GenesC1orf173
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)nsv4559391
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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