A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4158301



Internal ID20379136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:52574061..52799287hg38UCSC Ensembl
chr8:53486621..53711847hg19UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg38225227
hg19225227
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2596n166
Supporting Variantsnssv15984213
Samples
Known GenesRB1CC1
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)nsv4158301
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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