A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4519126



Internal ID20249245
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:228169557..228169845hg38UCSC Ensembl
chr1:228357258..228357546hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38289
hg19289
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15847399
Samples
Known GenesIBA57
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)nsv4519126
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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