A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4156048



Internal ID20030775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:28081483..28101483hg38UCSC Ensembl
chr8:27939000..27959000hg19UCSC Ensembl
Cytoband8p21.1
Allele length
AssemblyAllele length
hg3820001
hg1920001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15929057
Samples
Known GenesELP3, NUGGC
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)nsv4156048
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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