A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4162631



Internal ID20382255
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:28143618..28145148hg38UCSC Ensembl
chr8:28001135..28002665hg19UCSC Ensembl
Cytoband8p21.1
Allele length
AssemblyAllele length
hg381531
hg191531
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15929060
Samples
Known GenesELP3
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)nsv4162631
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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