A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4157977



Internal ID20378889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:102124277..102133144hg38UCSC Ensembl
chr8:103136505..103145372hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg388868
hg198868
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15985176
Samples
Known GenesMIR5680, NCALD
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)nsv4157977
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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